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: LRRK2: P1622L; rs751492506

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Clinical and Genetic Analysis of Costa Rican Patients With Parkinson's Disease.

Frontiers In Neurology

Torrealba-Acosta, Gabriel G; Yu, Eric E; Lobo-Prada, Tanya T; Ruíz-Martínez, Javier J; Gorostidi-Pagola, Ana A; Gan-Or, Ziv Z; Carazo-Céspedes, Kenneth K; Trempe, Jean-François JF; Mata, Ignacio F IF; Fornaguera-Trías, Jaime J

Publication Date: 2021

Variant appearance in text: LRRK2: P1622L; rs751492506

PubMed Link: 34421783

Variant Present in the following documents:

• Main text
• fneur-12-656342.pdf

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: PARK8: P1622L

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page