Varaico: Literature-Extracted Genetic Variants

Gene:PPFIA1
Variant:p.E460G
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PPFIA1

NM_003626.5:p.E460G

Associated Papers

A mutation in CABP2, expressed in cochlear hair cells, causes autosomal-recessive hearing impairment.

Schrauwen I et al.

American Journal of Human Genetics, 2012

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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."