Varaico: Literature-Extracted Genetic Variants

Gene:KIT
Variant:p.G610D
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KIT

NM_000222.3:p.G610D

Associated Papers

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

Molecular screening strategies for NF1-like syndromes with café-au-lait macules (Review).

Zhang J et al.

Molecular Medicine Reports, 2016

A novel missense KIT mutation causing piebaldism in one Chinese family associated with café-au-lait macules and intertriginous freckling.

Jia WX et al.

Therapeutics and Clinical Risk Management, 2015

Piebaldism and neurofibromatosis type 1: family report.

Duarte AF et al.

Dermatology Online Journal, 2010

[A novel KIT gene mutation from a family with piebaldism in the southern part of China].

Deng WP et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2005

[A novel KIT gene mutation results in piebaldism].

Deng WP et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2005

Association of Piebaldism, multiple café-au-lait macules, and intertriginous freckling: clinical evidence of a common pathway between KIT and sprouty-related, ena/vasodilator-stimulated phosphoprotein homology-1 domain containing protein 1 (SPRED1).

Chiu YE et al.

Pediatric Dermatology, 0

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