Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHF1
Variant:p.L31P
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PLEKHF1

NM_024310.5:p.L31P

Associated Papers

Exome sequencing identifies a novel missense mutation of WFS1 as the cause of non-syndromic low-frequency hearing loss in a Chinese family.

Niu Z et al.

International Journal of Pediatric Otorhinolaryngology, 2017

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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."