Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.R1846H
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MYH7

NM_000257.4:p.R1846H

Associated Papers

Expanding the phenotypic spectrum of NOTCH1 variants: clinical manifestations in families with congenital heart disease.

Stanley KJ et al.

European Journal of Human Genetics : Ejhg, 2024

38778082 (PubMed )
Supplement: 41431_2024_1629_MOESM2_ESM.xlsx › E-III-1

Relationship Between Genotype Status and Clinical Outcome in Hypertrophic Cardiomyopathy.

Bonaventura J et al.

Journal of the American Heart Association, 2024

38757491 (PubMed )
Supplement: JAH3-13-e033565-s001.pdf

The Diagnostic Value of MRI Pattern Recognition in Distal Myopathies.

Bugiardini E et al.

Frontiers in Neurology, 2018

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