Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.R721Splc
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MYH7

NM_000257.4:p.R721Splc

Associated Papers

Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel.

Kelly MA et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

29300372 (PubMed )
Supplement: gim2017218x7.xlsx › Supplementary_Table_4
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