Varaico: Literature-Extracted Genetic Variants

Gene:POU4F3
Variant:p.P125L
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POU4F3

NM_002700.3:p.P125L

Associated Papers

Enigmatic missense mutations can cause disease via creation of de novo nuclear export signals.

McConville BM et al.

Biorxiv : the Preprint Server for Biology, 2024

Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss.

Richard EM et al.

Human Mutation, 2019

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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."