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: LRP1: G3948D; rs755874188

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

Investigation of rare variants in LRP1, KPNA1, ALS2CL and ZNF480 genes in schizophrenia patients reflects genetic heterogeneity of the disease.

Behavioral And Brain Functions : Bbf

Jouan, Loubna L; Girard, Simon L SL; Dobrzeniecka, Sylvia S; Ambalavanan, Amirthagowri A; Krebs, Marie-Odile MO; Joober, Ridha R; Gauthier, Julie J; Dion, Patrick A PA; Rouleau, Guy A GA

Publication Date: 2013-02-20

Variant appearance in text: LRP1: G3948D

PubMed Link: 23425335

Variant Present in the following documents:

• Main text
• 1744-9081-9-9.pdf

View BVdb publication page