Varaico: Literature-Extracted Genetic Variants

Gene:MLANA
Variant:p.Y47C
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MLANA

NM_005511.2:p.Y47C

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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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."