Varaico: Literature-Extracted Genetic Variants

Gene:EBP
Variant:p.Q94L
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EBP

NM_006579.3:p.Q94L

Associated Papers

A mutation in the 3'-UTR of the HDAC6 gene abolishing the post-transcriptional regulation mediated by hsa-miR-433 is linked to a new form of dominant X-linked chondrodysplasia.

Simon D et al.

Human Molecular Genetics, 2010

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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."