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R331W Missense Mutation of Oncogene YAP1 Is a Germline Risk Allele for Lung Adenocarcinoma With Medical Actionability.

• Authors : Chen HY; Hsuan-Yu Chen, Yi-Chiung Hsu, Chi-Sheng Chang, Yu-Cheng Li, Hao Ho, Ya-Hsuan Chang, Shinsheng Yuan, Chia-Hsin Liu, Guan-I Wu, and Ker-Chau Li, Institute of Statistical Science, and Shi-Yi Yang, Hwai-I Yang, and Chien-Jen Chen, Genomics Research Center, Academia Sinica; Hsuan-Yu Chen, Sung-Liang Yu, Bing-Ching Ho, Kang-Yi Su, and Pin-Yen Hsu, College of Medicine

Subjects: Germ-Line Mutation* ; Mutation, Missense*; Adaptor Proteins, Signal Transducing/Adaptor Proteins, Signal Transducing/Adaptor Proteins, Signal Transducing/*genetics

• Source: Journal of clinical oncology : official journal of the American Society of Clinical Oncology [J Clin Oncol] 2015 Jul 10; Vol. 33 (20), pp. 2303-10. Date of Electronic Publication: Publisher: American Society of Clinical Oncology Country of Publication: United States NLM ID: 8309333 Publication Model: Print-Electronic Cited Medium:

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A novel missense mutation of the SMPD1 gene in a Taiwanese patient with type B Niemann-Pick disease.

• Authors : Lan MY; Lin SJ; Chen YF

Subjects: Mutation, Missense*; Niemann-Pick Disease, Type B/Niemann-Pick Disease, Type B/Niemann-Pick Disease, Type B/*genetics ; Sphingomyelin Phosphodiesterase/Sphingomyelin Phosphodiesterase/Sphingomyelin Phosphodiesterase/*genetics

• Source: Annals of hematology [Ann Hematol] 2009 Jul; Vol. 88 (7), pp. 695-7. Date of Electronic Publication: 2008 Dec 03.Publisher: Springer Verlag Country of Publication: Germany NLM ID: 9107334 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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A novel heterozygous missense mutation 377T > C (V126A) of TGIF gene in a family segregated with holoprosencephaly and moyamoya disease.

• Authors : Chen M; Department of Obstetrics and Gynecology, Changhua Christian Hospital, Changhua, Taiwan, Republic of China. ; Kuo SJ

Subjects: Mutation, Missense*; Holoprosencephaly/Holoprosencephaly/Holoprosencephaly/*genetics ; Homeodomain Proteins/Homeodomain Proteins/Homeodomain Proteins/*genetics

• Source: Prenatal diagnosis [Prenat Diagn] 2006 Mar; Vol. 26 (3), pp. 226-30.Publisher: Wiley Country of Publication: England NLM ID: 8106540 Publication Model: Print Cited Medium: Print ISSN: 0197-3851 (Print) Linking

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High frequency of somatic missense mutation of BRCA2 in female breast cancer from Taiwan.

• Authors : Chen FM; Department of Surgery, Kaohsiung Municipal Hsiao-Kang Hospital, 482 Shan-Ming Road Kaohsiung 812, Taiwan, ROC.; Hou MF

Subjects: Genes, BRCA2* ; Mutation, Missense*; Breast Neoplasms/Breast Neoplasms/Breast Neoplasms/*genetics

• Source: Cancer letters [Cancer Lett] 2005 Apr 08; Vol. 220 (2), pp. 177-84.Publisher: Elsevier Science Ireland Country of Publication: Ireland NLM ID: 7600053 Publication Model: Print Cited Medium: Print ISSN: 0304-3835

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A novel missense mutation (H119L) identified in a Taiwan Chinese family with glycogen storage disease Ia (Von Gierke disease).

• Authors : Wu MC; Department of Medical Research, China Medical College Hospital, Taichung, Taiwan.; Tsai FJ

Subjects: Glycogen Storage Disease Type I/Glycogen Storage Disease Type I/Glycogen Storage Disease Type I/*genetics ; Mutation, Missense/Mutation, Missense/Mutation, Missense/*genetics; Alternative Splicing/Alternative Splicing/Alternative Splicing/genetics

• Source: Human mutation [Hum Mutat] 2000 Nov; Vol. 16 (5), pp. 447.Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print Cited Medium: Internet ISSN: 1098-1004

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Novel mutations, including a novel G659A missense mutation, of the FUT1 gene are responsible for the para-Bombay phenotype.

• Authors : Sun CF; Department of Clinical Pathology, Chang Gung Memorial Hospital, Tao-Yuan, Taiwan.; Lo MD

Subjects: Mutation, Missense*; ABO Blood-Group System/ABO Blood-Group System/ABO Blood-Group System/*genetics ; Fucosyltransferases/Fucosyltransferases/Fucosyltransferases/*genetics

• Source: Annals of clinical and laboratory science [Ann Clin Lab Sci] 2000 Oct; Vol. 30 (4), pp. 387-90.Publisher: Institute for Clinical Science Country of Publication: United States NLM ID: 0410247 Publication Model: Print Cited Medium: Print ISSN:

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Newly identified missense mutation reduces lipoprotein lipase activity in Taiwanese patients with hypertriglyceridemia.

• Authors : Kao JT; Graduate Institute of Medical Technology, College of Medicine, National Taiwan University, Taipei, Taiwan.; Hsiao WH

Subjects: Mutation, Missense*; Hypertriglyceridemia/Hypertriglyceridemia/Hypertriglyceridemia/*genetics ; Lipoprotein Lipase/Lipoprotein Lipase/Lipoprotein Lipase/*genetics

• Source: Journal of the Formosan Medical Association = Taiwan yi zhi [J Formos Med Assoc] 1999 Sep; Vol. 98 (9), pp. 606-12.Publisher: Formosan Medical Association, Elsevier Country of Publication: Singapore NLM ID: 9214933 Publication Model: Print Cited Medium: Print

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Self-improving dystrophic epidermolysis bullosa with a novel heterozygous missense variant in the COL7A1 gene in a Taiwanese family.

• Authors : Tsai YC; Department of General Medicine, Kaohsiung Chang Gung Memorial Hospital, Kaohsiung, Taiwan.; Tu WT

Subjects: Epidermolysis Bullosa Dystrophica*/Epidermolysis Bullosa Dystrophica*/Epidermolysis Bullosa Dystrophica*/genetics ; Collagen Type VII*/Collagen Type VII*/Collagen Type VII*/genetics ; Mutation, Missense*

• Source: Wound repair and regeneration : official publication of the Wound Healing Society [and] the European Tissue Repair Society [Wound Repair Regen] 2024 Jul-Aug; Vol. 32 (4), pp. 511-516. Publisher: Blackwell Science Country of Publication: United States NLM ID: 9310939 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Reports Outline Hearing Loss Study Results from Chung Shan Medical University [Mechanism of a novel missense mutation, p.V174M, of the human connexin31 (GJB3) in causing nonsyndromic hearing loss].

• Source: Health & Medicine Week. 2014, pages. 3382

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Missense mutation at CLDN8 associated with a high plasma interferon gamma-inducible protein 10 level in methadone-maintained patients with urine test positive for morphine.

• Authors : Liu, Tung-Hsia; Chung, Ren-Hua; Wang, Sheng-Chang

• Source: PLoS ONE. November 16, 2017, Vol. 12 Issue 11, e0187639.

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