Varaico: Literature-Extracted Genetic Variants

Gene:PABPN1
Variant:p.A4insFs
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PABPN1

NM_004643.4:p.A4insFs

Associated Papers

Oculopharyngeal muscular dystrophy (OPMD) due to a small duplication in the PABPN1 gene.

van der Sluijs BM et al.

Human Mutation, 2003

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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."