Varaico: Literature-Extracted Genetic Variants

Gene:ATAD5
Variant:p.D215N
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ATAD5

NM_024857.5:p.D215N

Associated Papers

EPS8L2 is a new causal gene for childhood onset autosomal recessive progressive hearing loss.

Dahmani M et al.

Orphanet Journal of Rare Diseases, 2015

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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."