Publications:

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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: rs374827260

PubMed Link: 34326492

Variant Present in the following documents:

• NIHMS1754145-supplement-Supplemental_Table_2.xlsx, sheet 1

View BVdb publication page

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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: rs374827260

PubMed Link: 34326492

Variant Present in the following documents:

• NIHMS1754145-supplement-Supplemental_Table_2.xlsx, sheet 1

View BVdb publication page

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Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: rs374827260

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Prediction of the damage-associated non-synonymous single nucleotide polymorphisms in the human MC1R gene.

Plos One

Hepp, Diego D; Gonçalves, Gislene Lopes GL; de Freitas, Thales Renato Ochotorena TR

Publication Date: 2015

Variant appearance in text: MC1R: D117V; rs374827260

PubMed Link: 25794181

Variant Present in the following documents:

View BVdb publication page

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A large French case-control study emphasizes the role of rare Mc1R variants in melanoma risk.

Biomed Research International

Hu, Hui-Han HH; Benfodda, Mériem M; Dumaz, Nicolas N; Gazal, Steven S; Descamps, Vincent V; Bourillon, Agnès A; Basset-Seguin, Nicole N; Riffault, Angélique A; Ezzedine, Khaled K; Bagot, Martine M; Bensussan, Armand A; Saiag, Philippe P; Grandchamp, Bernard B; Soufir, Nadem N

Publication Date: 2014

Variant appearance in text: MC1R: 350A>T; D117V

PubMed Link: 24982914

Variant Present in the following documents:

• Main text
• 925716.f1.pdf
• BMRI2014-925716.pdf

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Relationship between germline MC1R variants and BRAF-mutant melanoma in a North Carolina population-based study.

The Journal Of Investigative Dermatology

Thomas, Nancy E NE; Kanetsky, Peter A PA; Edmiston, Sharon N SN; Alexander, Audrey A; Begg, Colin B CB; Groben, Pamela A PA; Hao, Honglin H; Busam, Klaus K; Ollila, David W DW; Berwick, Marianne M; Conway, Kathleen K

Publication Date: 2010-05

Variant appearance in text: MC1R: D117V

PubMed Link: 20043015

Variant Present in the following documents:

• Main text

View BVdb publication page

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