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: LDLR: D168G; rs879254549

PubMed Link: 36413997

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

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Aortic valve calcium score in hypercholesterolemic patients with and without low-density lipoprotein receptor gene mutation.

Plos One

Gałąska, Rafal R; Kulawiak-Gałąska, Dorota D; Chmara, Magdalena M; Chlebus, Krzysztof K; Studniarek, Michał M; Fijałkowski, Marcin M; Wasąg, Bartosz B; Rynkiewicz, Andrzej A; Gruchała, Marcin M

Publication Date: 2018

Variant appearance in text: LDLR: D168G

PubMed Link: 30592719

Variant Present in the following documents:

• Main text
• pone.0209229.pdf

View BVdb publication page