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: rs187886272

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Burden of Rare Variants in ALS and Axonal Hereditary Neuropathy Genes Influence Survival in ALS: Insights from a Next Generation Sequencing Study of an Italian ALS Cohort.

International Journal Of Molecular Sciences

Scarlino, Stefania S; Domi, Teuta T; Pozzi, Laura L; Romano, Alessandro A; Pipitone, Giovanni Battista GB; Falzone, Yuri Matteo YM; Mosca, Lorena L; Penco, Silvana S; Lunetta, Christian C; Sansone, Valeria V; Tremolizzo, Lucio L; Fazio, Raffaella R; Agosta, Federica F; Filippi, Massimo M; Carrera, Paola P; Riva, Nilo N; Quattrini, Angelo A

Publication Date: 2020-05-08

Variant appearance in text: rs187886272

PubMed Link: 32397312

Variant Present in the following documents:

• ijms-21-03346-s001.pdf

View BVdb publication page