Varaico: Literature-Extracted Genetic Variants

Gene:PGPEP1
Variant:p.R100C
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PGPEP1

NM_017712.4:p.R100C

Associated Papers

Whole‑exome sequencing identifies a novel mutation of SLC20A2 (c.C1849T) as a possible cause of hereditary multiple exostoses in a Chinese family.

Li Y et al.

Molecular Medicine Reports, 2020

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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."