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: D121E; rs200616835
Calcyphosine-like (CAPSL) is regulated in Multiple Symmetric Lipomatosis and is involved in Adipogenesis.
Scientific Reports
Lindner, Angie A; Marbach, Felix F; Tschernitz, Sebastian S; Ortner, Christine C; Berneburg, Mark M; Felthaus, Oliver O; Prantl, Lukas L; Kye, Min Jeong MJ; Rappl, Gunter G; Altmüller, Janine J; Thiele, Holger H; Schreml, Stephan S; Schreml, Julia J
Germline MC1R status influences somatic mutation burden in melanoma.
Nature Communications
Robles-Espinoza, Carla Daniela CD; Roberts, Nicola D ND; Chen, Shuyang S; Leacy, Finbarr P FP; Alexandrov, Ludmil B LB; Pornputtapong, Natapol N; Halaban, Ruth R; Krauthammer, Michael M; Cui, Rutao R; Timothy Bishop, D D; Adams, David J DJ