Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.L387F
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MYH7

NM_000257.4:p.L387F

Associated Papers

Identification of recurrent MYH7 variant hypertrophic cardiomyopathy patients in Korea: a case series.

Ryu SW et al.

Cardiovascular Diagnosis and Therapy, 2025

41509624 (PubMed )
Supplement: cdt-15-06-1174-supplementary.pdf

Unraveling the genetic tapestry of pediatric sarcomeric cardiomyopathies and masquerading phenocopies in Jordan.

Azab B et al.

Scientific Reports, 2024

Deciphering pathogenicity of variants of uncertain significance with CRISPR-edited iPSCs.

Guo H et al.

Trends in Genetics : Tig, 2021

Application of CRISPR-Cas9 gene editing for congenital heart disease.

Seok H et al.

Clinical and Experimental Pediatrics, 2021

Genetic Cardiomyopathies: The Lesson Learned from hiPSCs.

My I et al.

Journal of Clinical Medicine, 2021

Potential digenic inheritance of familial hypertrophic cardiomyopathy identified by whole-exome sequencing.

Ren MB et al.

Molecular Genetics & Genomic Medicine, 2020

Oligogenic inheritance of a human heart disease involving a genetic modifier.

Gifford CA et al.

Science (new York, N.y.), 2019

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."