Varaico: Literature-Extracted Genetic Variants

Gene:PNKP
Variant:p.R180S
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PNKP

NM_007254.4:p.R180S

Associated Papers

Protein domains provide a new layer of information for classifying human variations in rare diseases.

Corcuff M et al.

Frontiers in Bioinformatics, 2023

36896423 (PubMed )
Supplement: Table1.XLSX › Supplementary_Table_1

Mutational survivorship bias: The case of PNKP.

Bermúdez-Guzmán L et al.

Plos One, 2020

Variation in base excision repair capacity.

Wilson DM et al.

Mutation Research, 2011

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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."