Varaico: Literature-Extracted Genetic Variants

Gene:PERP
Variant:p.C51*
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PERP

NM_022121.5:p.C51*

Associated Papers

Integration of Phenotype Term Prioritization and Gene Expression Analysis Reveals a Novel Variant in the PERP Gene Associated with Autosomal Recessive Erythrokeratoderma.

González-Quintana A et al.

Genes, 2023

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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."