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: N/A

PubMed Link: 36413997

Variant Present in the following documents:

View BVdb publication page

Persistent sodium currents in SCN1A developmental and degenerative epileptic dyskinetic encephalopathy.

Brain Communications

Gorman, Kathleen M KM; Peters, Colin H CH; Lynch, Bryan B; Jones, Laura L; Bassett, Dani S DS; King, Mary D MD; Ruben, Peter C PC; Rosch, Richard E RE

Publication Date: 2021

Variant appearance in text: SCN1A: 5053G>T; rs760249153

PubMed Link: 34755109

Variant Present in the following documents:

• Main text
• fcab235.pdf

View BVdb publication page