Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.A200T
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MYH7

NM_000257.4:p.A200T

Associated Papers

Whole-genome sequencing in clinically diagnosed Charcot-Marie-Tooth disease undiagnosed by whole-exome sequencing.

Kim YG et al.

Brain Communications, 2023

37180992 (PubMed )
Supplement: fcad139_supplementary_data.zip › Supplementary_Table_1_and_Supplementary_References.docx

Intrinsic MYH7 expression regulation contributes to tissue level allelic imbalance in hypertrophic cardiomyopathy.

Montag J et al.

Journal of Muscle Research and Cell Motility, 2017

Impact of systolic dysfunction in genotyped hypertrophic cardiomyopathy.

Fujino N et al.

Clinical Cardiology, 2013

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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."