Publications:

Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports

Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA

Publication Date: 2020-09-21

Variant appearance in text: KCNH2: R92L

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2

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Gene therapy for inherited arrhythmias.

Cardiovascular Research

Bezzerides, Vassilios J VJ; Prondzynski, Maksymilian M; Carrier, Lucie L; Pu, William T WT

Publication Date: 2020-07-15

Variant appearance in text: KCNH2: R92L

PubMed Link: 32321160

Variant Present in the following documents:

• Main text

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REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports

Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D

Publication Date: 2019-09-04

Variant appearance in text: KCNH2: 275G>T; R92L

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

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Cardiac Troponin and Tropomyosin: Structural and Cellular Perspectives to Unveil the Hypertrophic Cardiomyopathy Phenotype.

Frontiers In Physiology

Marques, Mayra de A MA; de Oliveira, Guilherme A P GA

Publication Date: 2016

Variant appearance in text: HERG: R92L

PubMed Link: 27721798

Variant Present in the following documents:

• Main text
• fphys-07-00429.pdf

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