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A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency.

  • Source: Nature Genetics. January, 2016, Vol. 48 Issue 1, p74, 5 p.

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A specific missense mutation in GTF2I occurs at high frequency in thymic epithelial tumors.

  • Source: Nature Genetics. August 1, 2014, Vol. 46 Issue 8, p844, 10 p.

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A missense mutation in Tbce causes progressive motor neuronopathy in mice.

  • Source: Nature Genetics. November, 2002, Vol. 32 Issue 3, p443, 5 p.

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SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.

  • Source: Nature Genetics. February, 2017, Vol. 49 Issue 2, p238, 11 p.

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Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity.

  • Source: Nature Genetics. February 1, 2016, p144, 11 p.

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An activating NLRC4 inflammasome mutation causes autoinflammation with recurrent macrophage activation syndrome.

  • Source: Nature Genetics. October 1, 2014, Vol. 46 Issue 10, p1140, 9 p.

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A genetic mechanism for Tibetan high-altitude adaptation.

  • Source: Nature Genetics. September, 2014, Vol. 46 Issue 9, p951, 6 p.

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A genetic mechanism for Tibetan high-altitude adaptation.

  • Source: Nature Genetics. September 1, 2014, Vol. 46 Issue 9, p951, 8 p.

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An interactome perturbation framework prioritizes damaging missense mutations for developmental disorders.

  • Source: Nature Genetics. July, 2018, Vol. 50 Issue 7, 1032.

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A functional variant in the CFI gene confers a high risk of age-related macular degeneration.

  • Source: Nature Genetics. July 1, 2013, Vol. 45 Issue 7, p813, 7 p.

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  • 1-10 of  435 results for ""MISSENSE mutation""