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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CPA1

Variant:p.S272L

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CPA1

NM_001868.4:p.S272L

hg38:chr7:130385173 C>T

Associated Papers

AlphaMissense versus laboratory-based pathogenicity prediction of 13 novel missense CPA1 variants from pancreatitis cases.

Sándor M et al.

Gut, 2025

39256032 (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."