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: SCN5A: V1051A; rs756804959

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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HPO-driven virtual gene panel: a new efficient approach in molecular autopsy of sudden unexplained death.

Bmc Medical Genomics

Schön, Ulrike U; Holzer, Anna A; Laner, Andreas A; Kleinle, Stephanie S; Scharf, Florentine F; Benet-Pagès, Anna A; Peschel, Oliver O; Holinski-Feder, Elke E; Diebold, Isabel I

Publication Date: 2021-03-31

Variant appearance in text: SCN5A: 3152T>C; Val1051Ala

PubMed Link: 33789662

Variant Present in the following documents:

• Main text
• 12920_2021_Article_946.pdf

View BVdb publication page