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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PMS2

Variant:p.P484_T485delFs

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PMS2

NM_000535.7:p.P484_T485delFs

hg38:chr7:5987309 CCGTA>C

Associated Papers

Mismatch repair genes founder mutations and cancer susceptibility in Lynch syndrome.

Ponti G et al.

Clinical Genetics, 2015

25345868 (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."