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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PMS2

Variant:p.V564I

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PMS2

NM_000535.7:p.V564I

hg38:chr7:5987075 C>T

Associated Papers

Germline Pathogenic Variants in Homologous Recombination and DNA Repair Genes in an Asian Cohort of Young-Onset Colorectal Cancer.

Toh MR et al.

Jnci Cancer Spectrum, 2018

31360874 (PubMed )

Supplement: pky054_supp.docx

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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."