Varaico: Literature-Extracted Genetic Variants

Gene:MYH6
Variant:p.R1116H
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MYH6

NM_002471.4:p.R1116H

Associated Papers

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

Anfinson M et al.

Journal of Cardiovascular Development and Disease, 2022

Impact of functional studies on exome sequence variant interpretation in early-onset cardiac conduction system diseases.

Hayashi K et al.

Cardiovascular Research, 2020

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

Sun J et al.

Genomics, Proteomics & Bioinformatics, 2020

32827758 (PubMed )
Supplement: mmc12.xlsx › Supplementary_table_6

Defining the diagnostic effectiveness of genes for inclusion in panels: the experience of two decades of genetic testing for hypertrophic cardiomyopathy at a single center.

Mazzarotto F et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

29875424 (PubMed )
Supplement: 41436_2018_46_MOESM1_ESM.xlsx › Table_S3

Clonal Structures of Regionally Synchronous Gastric Adenomas and Carcinomas.

Jung SH et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2018

29945994 (PubMed )
Supplement: 10780432ccr180345-sup-196274_3_supp_4826357_pjb33v.xlsx › Table_S2
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