Varaico: Literature-Extracted Genetic Variants

Gene:PNPLA6
Variant:p.S1030fs
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PNPLA6

NM_001166111.2:p.S1030fs

Associated Papers

A novel PNPLA6 compound heterozygous mutation identified in a Chinese patient with Boucher‑Neuhäuser syndrome.

Zheng R et al.

Molecular Medicine Reports, 2018

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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."