Publications:

Significance of α-Myosin Heavy Chain (MYH6) Variants in Hypoplastic Left Heart Syndrome and Related Cardiovascular Diseases.

Journal Of Cardiovascular Development And Disease

Anfinson, Melissa M; Fitts, Robert H RH; Lough, John W JW; James, Jeanne M JM; Simpson, Pippa M PM; Handler, Stephanie S SS; Mitchell, Michael E ME; Tomita-Mitchell, Aoy A

Publication Date: 2022-05-03

Variant appearance in text: MYH6: R1177W

PubMed Link: 35621855

Variant Present in the following documents:

• jcdd-09-00144.pdf

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The Biological Significance of Multi-copy Regions and Their Impact on Variant Discovery.

Genomics, Proteomics & Bioinformatics

Sun, Jing J; Zhang, Yanfang Y; Wang, Minhui M; Guan, Qian Q; Yang, Xiujia X; Ou, Jin Xia JX; Yan, Mingchen M; Wang, Chengrui C; Zhang, Yan Y; Li, Zhi-Hao ZH; Lan, Chunhong C; Mao, Chen C; Zhou, Hong-Wei HW; Hao, Bingtao B; Zhang, Zhenhai Z

Publication Date: 2020-10

Variant appearance in text: MYH6: 3529C>T; Arg1177Trp

PubMed Link: 32827758

Variant Present in the following documents:

• mmc12.xlsx, sheet 1

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Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy.

Circulation. Cardiovascular Genetics

Hershberger, Ray E RE; Norton, Nadine N; Morales, Ana A; Li, Duanxiang D; Siegfried, Jill D JD; Gonzalez-Quintana, Jorge J

Publication Date: 2010-04

Variant appearance in text: MYH6: Arg1177Trp

PubMed Link: 20215591

Variant Present in the following documents:

• Main text

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