Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.D554Y
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MYH7

NM_000257.4:p.D554Y

Associated Papers

Disease mutations in striated muscle myosins.

Parker F et al.

Biophysical Reviews, 2020

32651905 (PubMed )
Supplement: 12551_2020_721_MOESM1_ESM.pdf

[Analysis of genotype-phenotype correlation for a novel MYH7-D554Y mutation identified in an ethnic Han Chinese pedigree affected with hypertrophic cardiomyopathy].

Yang Q et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2018

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