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: SI: H112N; rs774376687

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Pph3-Psy2 is a phosphatase complex required for Rad53 dephosphorylation and replication fork restart during recovery from DNA damage.

Proceedings Of The National Academy Of Sciences Of The United States Of America

O'Neill, Bryan M BM; Szyjka, Shawn J SJ; Lis, Ewa T ET; Bailey, Aaron O AO; Yates, John R JR; Aparicio, Oscar M OM; Romesberg, Floyd E FE

Publication Date: 2007-05-29

Variant appearance in text: SI: H112N

PubMed Link: 17517611

Variant Present in the following documents:

• Main text

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