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: rs1489108974

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

A genetically-encoded crosslinker screen identifies SERBP1 as a PKCε substrate influencing translation and cell division.

Nature Communications

Martini, Silvia S; Davis, Khalil K; Faraway, Rupert R; Elze, Lisa L; Lockwood, Nicola N; Jones, Andrew A; Xie, Xiao X; McDonald, Neil Q NQ; Mann, David J DJ; Armstrong, Alan A; Ule, Jernej J; Parker, Peter J PJ

Publication Date: 2021-11-26

Variant appearance in text: PKC: A313S

PubMed Link: 34836941

Variant Present in the following documents:

• Main text
• 41467_2021_Article_27189.pdf

View BVdb publication page

A genetically-encoded crosslinker screen identifies SERBP1 as a PKCε substrate influencing translation and cell division.

Nature Communications

Martini, Silvia S; Davis, Khalil K; Faraway, Rupert R; Elze, Lisa L; Lockwood, Nicola N; Jones, Andrew A; Xie, Xiao X; McDonald, Neil Q NQ; Mann, David J DJ; Armstrong, Alan A; Ule, Jernej J; Parker, Peter J PJ

Publication Date: 2021-11-26

Variant appearance in text: PKC: A313S

PubMed Link: 34836941

Variant Present in the following documents:

• Main text
• 41467_2021_Article_27189.pdf

View BVdb publication page