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Researchers at IRCCS Policlinico San Donato Zero in on Left Ventricular Hypertrophy [When Paying Attention Pays Back: Missense Mutation c.1006G>A p. (Val336Ile) in * * PRKAG2* * Gene Causing Left Ventricular Hypertrophy and Conduction ...].

• Source: Health & Medicine Week. 2024, pages. 4088

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Genetic evidence for predisposition to acute leukemias due to a missense mutation (p.Ser518Arg) in ZAP70 kinase: a case-control study.

• Authors : Khashei Varnamkhasti, Khalil; Khashei Varnamkhasti, Samire; Shahrouzian, Atefeh

• Source: BMC Medical Genomics. August 7, 2024, Vol. 17 Issue 1.

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Researchers at IRCCS Policlinico San Donato Zero in on Left Ventricular Hypertrophy [When Paying Attention Pays Back: Missense Mutation c.1006G>A p. (Val336Ile) in * * PRKAG2* * Gene Causing Left Ventricular Hypertrophy and Conduction ...]

• Source: Health & Medicine Week. October 4, 2024, 4088

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Reports Outline CHARGE Syndrome Research from Osaka Police Hospital (Combined pituitary hormone deficiency harboring CHD7 gene missense mutation without CHARGE syndrome: a case report)

• Source: Obesity, Fitness & Wellness Week. June 17, 2023, 4186

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A Novel Missense Mutation of the CSFIR Gene Causes Incurable CSFIR-Related Leukoencephalopathy: Case Report and Review of Literature

• Authors : Chen, Jie; Luo, Shiying; Li, Ning

• Source: International Journal of General Medicine. December 31, 2020, Vol. 13, p1613, 8 p.

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Griscelli syndrome type 3 in Ethiopian sisters resulting from a homozygous missense mutation in MLPH.

• Authors : Dagnewu, Kidist Y.¹ (AUTHOR) ; Ayele, Adane¹ (AUTHOR); Liu, Lu² (AUTHOR)

Subjects: *MISSENSE mutation; *SISTERS; *SYNDROMES

• Source: International Journal of Dermatology. Mar2020, Vol. 59 Issue 3, pe55-e57. 3p. 1 Color Photograph, 1 Diagram.

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New Data from University Hospital Quironsalud Illuminate Findings in Renpenning's Syndrome (A Mild Clinical and Neuropsychological Phenotype of Renpenning Syndrome: a New Case Report With a Maternally Inherited Pqbp1 Missense Mutation)

• Source: Obesity, Fitness & Wellness Week. April 15, 2023, 3010

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New Alzheimer Disease Data Have Been Reported by Researchers at Capital Medical University (Missense mutation of angiotensin converting enzyme gene in an Alzheimer's disease patient: a case report)

• Source: Health & Medicine Week. March 29, 2024, 3229

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Research on Chronic Idiopathic Jaundice Detailed by Researchers at Catholic University of Korea (Genotype-Phenotype Association in * * ABCC2* * Exon 18 Missense Mutation Leading to Dubin-Johnson Syndrome: A Case Report)

• Source: Obesity, Fitness & Wellness Week. January 14, 2023, 4960

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Research from Zhejiang University School of Medicine Has Provided New Study Findings on Sotos Syndrome (Case Report of Neonatal Sotos Syndrome with a New Missense Mutation in the * * NSD1* * Gene and Literature Analysis in the Chinese Han ...)

• Source: Obesity, Fitness & Wellness Week. August 13, 2022, 5290

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