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: TTN: K22368N; rs727503577

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Hypertrophy Regression With N-Acetylcysteine in Hypertrophic Cardiomyopathy (HALT-HCM): A Randomized, Placebo-Controlled, Double-Blind Pilot Study.

Circulation Research

Marian, Ali J AJ; Tan, Yanli Y; Li, Lili L; Chang, Jeffrey J; Syrris, Petros P; Hessabi, Manouchehr M; Rahbar, Mohammad H MH; Willerson, James T JT; Cheong, Benjamin Y BY; Liu, Chia-Ying CY; Kleiman, Neal S NS; Bluemke, David A DA; Nagueh, Sherif F SF

Publication Date: 2018-04-13

Variant appearance in text: TTN: Lys22368Asn

PubMed Link: 29540445

Variant Present in the following documents:

• Main text

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A Potential Oligogenic Etiology of Hypertrophic Cardiomyopathy: A Classic Single-Gene Disorder.

Circulation Research

Li, Lili L; Bainbridge, Matthew Neil MN; Tan, Yanli Y; Willerson, James T JT; Marian, Ali J AJ

Publication Date: 2017-03-31

Variant appearance in text: TTN: Lys22368Asn

PubMed Link: 28223422

Variant Present in the following documents:

• Main text

View BVdb publication page