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: APC: G877D; rs558732083

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

Short tandem repeat profiling for the authentication of cancer stem-like cells.

International Journal Of Cancer

Visconti, Paola P; Parodi, Federica F; Parodi, Barbara B; Casarino, Lucia L; Romano, Paolo P; Buccarelli, Mariachiara M; Pallini, Roberto R; D'Alessandris, Quintino Giorgio QG; Montori, Andrea A; Pilozzi, Emanuela E; Ricci-Vitiani, Lucia L

Publication Date: 2021-03-15

Variant appearance in text: APC: 2630G>A; Gly877Asp

PubMed Link: 33128777

Variant Present in the following documents:

• IJC-148-1489-s001.pdf

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Distinctive DNA mismatch repair and APC rare variants in African Americans with colorectal neoplasia.

Oncotarget

Ashktorab, Hassan H; Azimi, Hamed H; Varma, Sudhir S; Tavakoli, Payaam P; Nickerson, Michael L ML; Brim, Hassan H

Publication Date: 2017-11-21

Variant appearance in text: APC: G877D

PubMed Link: 29245953

Variant Present in the following documents:

• oncotarget-08-99966-s003.xlsx, sheet 3

View BVdb publication page