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Academic Journal

Heterozygous KRT10 missense variant in a Chihuahua with severe epidermolytic ichthyosis.

Subjects: *MISSENSE mutation; *ICHTHYOSIS; *NUCLEOTIDE sequencingCHIHUAHUA (Mexico : State)

  • Source: Animal Genetics. Oct2023, Vol. 54 Issue 5, p652-654. 3p.

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Academic Journal

A novel B*07 variant allele, B*07:416, identified by next‐generation sequencing.

Subjects: *NUCLEOTIDE sequencing; *MISSENSE mutation; *COMPLEMENTARY DNA

  • Source: HLA: Immune Response Genetics. Jun2021, Vol. 97 Issue 6, p545-546. 2p.

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Academic Journal

A homozygous missense mutation in the fibroblast growth factor 5 gene is associated with the long-hair trait in Angora rabbits.

Subjects: *MISSENSE mutation; *FIBROBLAST growth factors; *RABBIT breedingNEW Zealand

  • Source: BMC Genomics. 6/2/2023, Vol. 24 Issue 1, p1-13. 13p.

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Academic Journal

Five new F10 variants in hereditary factor x deficiency detected by high‐throughput sequencing.

Subjects: *NUCLEOTIDE sequencing; *MISSENSE mutation; *PEPTIDES

  • Source: Haemophilia. Nov2023, Vol. 29 Issue 6, p1565-1572. 8p.

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Academic Journal

A homozygous TARS2 variant is a novel cause of syndromic neonatal diabetes.

Subjects: *MISSENSE mutation; *DEVELOPMENTAL delay; *ETIOLOGY of diabetes

  • Source: Diabetic Medicine. Nov2024, p1. 7p. 2 Illustrations.

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Academic Journal

Mutations in DCHS1 cause mitral valve prolapse.

Subjects: MITRAL valve prolapse; MISSENSE mutation; MITRAL valve insufficiency

  • Source: Nature. 9/3/2015, Vol. 525 Issue 7567, p109-113. 5p. 1 Color Photograph, 6 Diagrams, 1 Chart, 7 Graphs.

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Academic Journal

Fetal Presentation of Walker-Warburg Syndrome with Compound Heterozygous POMT2 Missense Mutations.

Subjects: *FETAL presentation; *MISSENSE mutation; *FACIOSCAPULOHUMERAL muscular dystrophy

  • Source: Fetal & Pediatric Pathology. Apr2023, Vol. 42 Issue 2, p334-341. 8p.

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Academic Journal

A recurrent somatic missense mutation in GNAS gene identified in familial thyroid follicular cell carcinomas in German longhaired pointer dogs.

Subjects: *SOMATIC mutation; *MISSENSE mutation; *GENETIC mutation

  • Source: BMC Genomics. 9/23/2022, Vol. 23 Issue 1, p1-13. 13p.

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Academic Journal

Evaluation of the Patients with the Diagnosis of Pontocerebellar Hypoplasia: A Multicenter National Study.

Subjects: *MISSENSE mutation; *CEREBELLUM degeneration; *PHENOTYPIC plasticity

  • Source: Cerebellum. Oct2024, Vol. 23 Issue 5, p1950-1965. 16p.

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Academic Journal

A heterozygous missense mutation of CARD14 gene in a case of Netherton-Like syndrome.

Subjects: *MISSENSE mutation; *GENETIC mutation; *NUCLEOTIDE sequencing

  • Source: Indian Journal of Paediatric Dermatology. Jul-Sep2021, Vol. 22 Issue 3, p267-270. 4p.

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  • 1-10 of  2,006 results for ""MISSENSE mutation""