Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.A1012D
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MYH7

NM_000257.4:p.A1012D

Associated Papers

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

Phenotype-driven variant filtration strategy in exome sequencing toward a high diagnostic yield and identification of 85 novel variants in 400 patients with rare Mendelian disorders.

Marinakis NM et al.

American Journal of Medical Genetics. Part A, 2021

Prospective Evaluation of the Utility of Whole Exome Sequencing in Dilated Cardiomyopathy.

Ramchand J et al.

Journal of the American Heart Association, 2020

31931689 (PubMed )
Supplement: JAH3-9-e013346-s001.pdf
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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."