PC c.608dup ;(p.M204Hfs*97)

Variant ID: 11-66638547-G-GC

NM_001040716.1(PC):c.608dup;(p.M204Hfs*97)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Loss-of-function mutations in CAST cause peeling skin, leukonychia, acral punctate keratoses, cheilitis, and knuckle pads.

American Journal Of Human Genetics
Lin, Zhimiao Z; Zhao, Jiahui J; Nitoiu, Daniela D; Scott, Claire A CA; Plagnol, Vincent V; Smith, Frances J D FJ; Wilson, Neil J NJ; Cole, Christian C; Schwartz, Mary E ME; McLean, W H Irwin WH; Wang, Huijun H; Feng, Cheng C; Duo, Lina L; Zhou, Eray Yihui EY; Ren, Yali Y; Dai, Lanlan L; Chen, Yulan Y; Zhang, Jianguo J; Xu, Xun X; O'Toole, Edel A EA; Kelsell, David P DP; Yang, Yong Y
Publication Date: 2015-03-05

Variant appearance in text: PC: 607dup
PubMed Link: 25683118
Variant Present in the following documents:
  • Main text
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