Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.Q219E
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MYH7

NM_000257.4:p.Q219E

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

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_MOESM4_ESM.xlsx › Sheet1

Multinational experience with next-generation sequencing: opportunity to identify transthyretin cardiac amyloidosis and Fabry disease.

Silva SME et al.

Cardiovascular Diagnosis and Therapy, 2024

Development of a high resolution melting method for the detection of genetic variations in hypertrophic cardiomyopathy.

Millat G et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2010

Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy.

Millat G et al.

European Journal of Medical Genetics, 0

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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."