Publications:

Large scale clinical exome sequencing uncovers the scope and severity of skin disorders associated with MC1R genetic variants.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Moore, Bryn S BS; Luo, Jonathan Z JZ; Stepanchick, Ann N AN; Mirshahi, Tooraj T

Publication Date: 2021-12

Variant appearance in text: rs745939194

PubMed Link: 34326492

Variant Present in the following documents:

• NIHMS1754145-supplement-Supplemental_Table_2.xlsx, sheet 1

View BVdb publication page

Large scale clinical exome sequencing uncovers the scope and severity of skin disorders associated with MC1R genetic variants.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Moore, Bryn S BS; Luo, Jonathan Z JZ; Stepanchick, Ann N AN; Mirshahi, Tooraj T

Publication Date: 2021-12

Variant appearance in text: rs745939194

PubMed Link: 34326492

Variant Present in the following documents:

• NIHMS1754145-supplement-Supplemental_Table_2.xlsx, sheet 1

View BVdb publication page

Palmitoylation-dependent activation of MC1R prevents melanomagenesis.

Nature

Chen, Shuyang S; Zhu, Bo B; Yin, Chengqian C; Liu, Wei W; Han, Changpeng C; Chen, Baoen B; Liu, Tongzheng T; Li, Xin X; Chen, Xiang X; Li, Chunying C; Hu, Limin L; Zhou, Jun J; Xu, Zhi-Xiang ZX; Gao, Xiumei X; Wu, Xu X; Goding, Colin R CR; Cui, Rutao R

Publication Date: 2017-09-21

Variant appearance in text: MC1R: C78S

PubMed Link: 28869973

Variant Present in the following documents:

• Main text
• nihms899525.pdf

View BVdb publication page