Varaico: Literature-Extracted Genetic Variants

Gene:WHRN
Variant:p.E52K
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WHRN

NM_015404.4:p.E52K

Associated Papers

Whirlin and PDZ domain-containing 7 (PDZD7) proteins are both required to form the quaternary protein complex associated with Usher syndrome type 2.

Chen Q et al.

The Journal of Biological Chemistry, 2014

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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."