Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.R1337Q
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MYH7

NM_000257.4:p.R1337Q

Associated Papers

Secondary Findings in a Research Cohort: Spectrum and the Indian Perspective.

Motwani P et al.

American Journal of Medical Genetics. Part A, 2025

Comprehensive genetic screening of 70 severe adolescent idiopathic scoliosis probands reveals novel pathogenic variants and syndromic associations.

Horbacz M et al.

Frontiers in Medicine, 2025

41210864 (PubMed )
Supplement: Table_4.XLSX › Supplementary_Table_4

Signal-to-Noise Analysis Can Inform the Likelihood That Incidentally Identified Variants in Sarcomeric Genes Are Associated with Pediatric Cardiomyopathy.

Kurzlechner LM et al.

Journal of Personalized Medicine, 2022

35629155 (PubMed )
Supplement: jpm-12-00733-s001.zip › HCM_ES_Variants_Manuscript__Supplemental_Table_S1.xlsx › MYH7

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.

Walsh R et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

27532257 (PubMed )
Supplement: gim201690x1.zip › Supplementary_Tables_resubmit.xlsx › Table_S12

Sudden cardiac death in young: A cardiac-focused autopsy and molecular study to identify the cause.

Arava S et al.

Indian Heart Journal, 0

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