Publications:

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: MC1R: F257Y; rs376508354

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Sequence characterization and polymorphism of melanocortin 1 receptor gene in some goat breeds with different coat color of Mongolia.

Asian-Australasian Journal Of Animal Sciences

Ganbold, Onolragchaa O; Manjula, Prabuddha P; Lee, Seung-Hwan SH; Paek, Woon Kee WK; Seo, Dongwon D; Munkhbayar, Munkhbaatar M; Lee, Jun Heon JH

Publication Date: 2019-07

Variant appearance in text: MC1R: 770T>A; F257Y

PubMed Link: 30744336

Variant Present in the following documents:

• Main text
• ajas-18-0819.pdf
• ajas-18-0819-suppl.pdf

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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: F257Y; rs376508354

PubMed Link: 25794181

Variant Present in the following documents:

View BVdb publication page