Varaico: Literature-Extracted Genetic Variants

Gene:XPNPEP3
Variant:p.A197Splc
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XPNPEP3

NM_022098.4:p.A197Splc

Associated Papers

Pervasive occurrence of splice-site-creating mutations and their possible involvement in genetic disorders.

Sakaguchi N et al.

Npj Genomic Medicine, 2022

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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."