Publications:

Novel pathogenic variants in KIT gene in three Chinese piebaldism patients.

Frontiers In Medicine

Wang, Chen C; Zhang, Yingzi Y; Hu, Xuyun X; Wang, Lijuan L; Xu, Zhe Z; Xing, Huan H

Publication Date: 2022

Variant appearance in text: KIT: Pro665Ser

PubMed Link: 36438053

Variant Present in the following documents:

• Main text
• fmed-09-1040747.pdf

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A full-proteome, interaction-specific characterization of mutational hotspots across human cancers.

Genome Research

Chen, Siwei S; Liu, Yuan Y; Zhang, Yingying Y; Wierbowski, Shayne D SD; Lipkin, Steven M SM; Wei, Xiaomu X; Yu, Haiyuan H

Publication Date: 2022-01

Variant appearance in text: KIT: P665S

PubMed Link: 34963661

Variant Present in the following documents:

• supp_gr.275437.121_Supplementary_Table_1.xlsx, sheet 3

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Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: KIT: P665S

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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Novel KIT Missense Mutation P665S in a Chinese Piebaldism Family.

Annals Of Dermatology

Zheng, Yan Y; Liu, Fen F; Yang, Yao Y; Liang, Yanhua Y

Publication Date: 2017-12

Variant appearance in text: KIT: P665S

PubMed Link: 29200776

Variant Present in the following documents:

• Main text

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Seven Cases of Senile Gluteal Dermatoses Developed with Ulcer.

Annals Of Dermatology

Gwak, Min-Jae MJ; Lee, Mu-Hyoung MH; Shin, Min Kyung MK

Publication Date: 2017-12

Variant appearance in text: KIT: P665S

PubMed Link: 29200775

Variant Present in the following documents:

• ad-29-799.pdf

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