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: POLE: E179G; rs756209651

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Low frequency of POLD1 and POLE exonuclease domain variants in patients with multiple colorectal polyps.

Molecular Genetics & Genomic Medicine

Elsayed, Fadwa A FA; Tops, Carli M J CMJ; Nielsen, Maartje M; Ruano, Dina D; Vasen, Hans F A HFA; Morreau, Hans H; J Hes, Frederik F; van Wezel, Tom T

Publication Date: 2019-04

Variant appearance in text: POLE: 536A>G

PubMed Link: 30827058

Variant Present in the following documents:

• Main text

View BVdb publication page