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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PMS1

Variant:p.V203_S204del1

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PMS1

NM_000534.5:p.V203_S204del1

hg38:chr2:189843989 TATC>T

Associated Papers

Clinical characterization and mutation spectrum in patients with familial adenomatous polyposis in China.

Li N et al.

Journal of Gastroenterology and Hepatology, 2019

31062380 (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."