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: HR: P66L; rs767723237

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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MCM8IP activates the MCM8-9 helicase to promote DNA synthesis and homologous recombination upon DNA damage.

Nature Communications

Huang, Jen-Wei JW; Acharya, Ananya A; Taglialatela, Angelo A; Nambiar, Tarun S TS; Cuella-Martin, Raquel R; Leuzzi, Giuseppe G; Hayward, Samuel B SB; Joseph, Sarah A SA; Brunette, Gregory J GJ; Anand, Roopesh R; Soni, Rajesh K RK; Clark, Nathan L NL; Bernstein, Kara A KA; Cejka, Petr P; Ciccia, Alberto A

Publication Date: 2020-06-11

Variant appearance in text: HR: 197C>T

PubMed Link: 32528060

Variant Present in the following documents:

• Main text
• 41467_2020_Article_16718.pdf

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