Varaico: Literature-Extracted Genetic Variants

Gene:MARCHF6
Variant:p.A4T
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MARCHF6

NM_005885.4:p.A4T

Associated Papers

Diagnostic Exome Sequencing Identifies a Novel Gene, EMILIN1, Associated with Autosomal-Dominant Hereditary Connective Tissue Disease.

Capuano A et al.

Human Mutation, 2016

26462740 (PubMed )
Supplement: HUMU-37-84-s001.pdf
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