Varaico: Literature-Extracted Genetic Variants

Gene:MYOCD
Variant:p.Q647H
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MYOCD

NM_001146312.3:p.Q647H

Associated Papers

Exome sequencing reveals novel IRXI mutation in congenital heart disease.

Guo C et al.

Molecular Medicine Reports, 2017

SCN8A mutation in a child presenting with seizures and developmental delays.

Malcolmson J et al.

Cold Spring Harbor Molecular Case Studies, 2016

27900360 (PubMed )
Supplement: supp_mcs.a001073_Supplementary_Table_1.xlsx › VAAST_results_39010_recessive.c
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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."