Varaico: Literature-Extracted Genetic Variants

Gene:KIT
Variant:p.C674Y
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KIT

NM_000222.3:p.C674Y

Associated Papers

KIT-related piebaldism in a Chinese girl.

Zhu L et al.

American Journal of Medical Genetics. Part A, 2020

Piebaldism with multiple café-au-lait-like hyperpigmented macules and inguinal freckling caused by a novel KIT mutation.

Nagaputra JC et al.

Jaad Case Reports, 2018

Café-au-lait macules and intertriginous freckling in piebaldism: clinical overlap with neurofibromatosis type 1 and Legius syndrome.

Stevens CA et al.

American Journal of Medical Genetics. Part A, 2012

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