Varaico: Literature-Extracted Genetic Variants

Gene:MED13
Variant:p.Q1675H
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MED13

NM_005121.3:p.Q1675H

Associated Papers

A novel homozygous mutation in HSF4 causing autosomal recessive congenital cataract.

Behnam M et al.

Journal of Human Genetics, 2016

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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."