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: R2686H; rs148104493

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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The Genomic Landscape of Actinic Keratosis.

The Journal Of Investigative Dermatology

Thomson, Jason J; Bewicke-Copley, Findlay F; Anene, Chinedu Anthony CA; Gulati, Abha A; Nagano, Ai A; Purdie, Karin K; Inman, Gareth J GJ; Proby, Charlotte M CM; Leigh, Irene M IM; Harwood, Catherine A CA; Wang, Jun J

Publication Date: 2021-07

Variant appearance in text: LRP1: 8057G>A; R2686H; rs148104493

PubMed Link: 33482222

Variant Present in the following documents:

• mmc1.xlsx, sheet 4

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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: R2686H; rs148104493

PubMed Link: 23425335

Variant Present in the following documents:

• Main text
• 1744-9081-9-9.pdf

View BVdb publication page