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Academic Journal

Comprehensive classification of TP53 somatic missense variants based on their impact on p53 structural stability.

Subjects: HUMAN genetic variation; MISSENSE mutation; MOLECULAR dynamics

  • Source: Briefings in Bioinformatics. Sep2024, Vol. 25 Issue 5, p1-12. 12p.

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A new de novo heterozygous missense mutation in the desmoplakin gene, causing Naxos and Carvajal disease, associating oligodontia and nail fragility.

Subjects: *ARRHYTHMOGENIC right ventricular dysplasia; *MISSENSE mutation; *GENETIC mutation

  • Source: Clinical & Experimental Dermatology. Jul2022, Vol. 47 Issue 7, p1424-1426. 3p. 1 Color Photograph.

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Academic Journal

A novel heterozygous missense variant in ribosomal protein L21 associated with familial hypotrichosis simplex.

Subjects: *GENETIC variation; *MISSENSE mutation; *RIBOSOMAL proteins

  • Source: Clinical & Experimental Dermatology. Jul2023, Vol. 48 Issue 7, p840-843. 4p. 1 Color Photograph, 1 Diagram.

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Discovering predisposing genes for hereditary breast cancer using deep learning.

Subjects: BRCA genes; MISSENSE mutation; PROTEIN analysis

  • Source: Briefings in Bioinformatics. Jul2024, Vol. 25 Issue 4, p1-16. 16p.

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Sporadic case of eruptive lentiginosis caused by Thr468Met missense mutation in the PTPN11 gene in a Han Chinese patient: first report and systematic literature review.

Subjects: *CHINESE people; *MISSENSE mutation; *LENTIGO

  • Source: Clinical & Experimental Dermatology. Aug2021, Vol. 46 Issue 6, p1116-1118. 3p. 1 Diagram, 1 Chart.

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A de novo missense mutation of the CYLD gene with multiple familial trichoepithelioma.

Subjects: *MISSENSE mutation; *GENETIC mutation

  • Source: Clinical & Experimental Dermatology. Jun2021, Vol. 46 Issue 4, p792-794. 3p. 1 Color Photograph, 1 Graph.

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Academic Journal

Characterization on the oncogenic effect of the missense mutations of p53 via machine learning.

Subjects: MISSENSE mutation; MACHINE learning; SUPPRESSOR mutation

  • Source: Briefings in Bioinformatics. Jan2024, Vol. 25 Issue 1, p1-13. 13p.

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Academic Journal

Homozygous dominant missense mutation in Keratin 6b leading to severe pachyonychia congenita.

Subjects: *ECTODERMAL dysplasia; *MISSENSE mutation; *KERATIN

  • Source: Clinical & Experimental Dermatology. Mar2021, Vol. 46 Issue 2, p410-412. 3p. 1 Color Photograph, 1 Diagram, 1 Graph.

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Academic Journal

Novel p.Ala675Thr missense mutation in TRPV3 in Olmsted syndrome.

Subjects: *MISSENSE mutation; *SYNDROMES

  • Source: Clinical & Experimental Dermatology. Aug2020, Vol. 45 Issue 6, p796-798. 3p. 1 Color Photograph, 1 Diagram.

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Academic Journal

Autosomal recessive plantar keratoderma with ragged periungual hyperkeratosis caused by a homozygous missense variant in KRT16.

Subjects: *MISSENSE mutation; *MEDICAL genetics; *GENETIC variation

  • Source: British Journal of Dermatology. Apr2024, Vol. 190 Issue 4, p588-590. 3p.

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  • 1-10 of  8,010 results for ""MISSENSE mutation""