Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.E1387K
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MYH7

NM_000257.4:p.E1387K

Associated Papers

The clinical and genetic spectrum of pediatric hypertrophic cardiomyopathy manifesting before one year of age.

Fetisova S et al.

Pediatric Research, 2025

40102575 (PubMed )
Supplement: 41390_2025_3989_MOESM2_ESM.xlsx › ____1

Somatic NAP1L1 p.D349E promotes cardiac hypertrophy through cGAS-STING-IFN signaling.

Lv C et al.

Nature Communications, 2025

40169585 (PubMed )
Supplement: 41467_2025_58453_MOESM3_ESM.xlsx › Sheet1

Reclassification of VUS Using ACMG/AMP Criteria Adapted for Sarcomeric Genes Related to Hypertrophic Cardiomyopathy: Resolution Rate and Considerations.

Caroselli S et al.

Human Mutation, 2025

Research Progress and Forensic Application of Postmortem Genetic Testing in Hereditary Cardiac Diseases.

Dong YM et al.

Fa Yi Xue Za Zhi, 2022

Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.

Barbosa P et al.

Frontiers in Cardiovascular Medicine, 2022

36061567 (PubMed )
Supplement: Table_1.XLSX › Table_S7

Recurrent PTPRT/JAK2 mutations in lung adenocarcinoma among African Americans.

Mitchell KA et al.

Nature Communications, 2019

31844068 (PubMed )
Supplement: 41467_2019_13732_MOESM7_ESM.xlsx › Sheet1

Genetic analysis of monoallelic double MYH7 mutations responsible for familial hypertrophic cardiomyopathy.

Wang B et al.

Molecular Medicine Reports, 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."