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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RNPEP

Variant:p.S100A

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RNPEP

NM_020216.4:p.S100A

hg38:chr1:201982964 T>G

Associated Papers

Functional impact of an oculopharyngeal muscular dystrophy mutation in PABPN1.

García-Castañeda M et al.

The Journal of Physiology, 2017

28303574 (PubMed )

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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."