NGS mismapping confounds the clinical interpretation of the PRSS1 p.Ala16Val (c.47C>T) variant in chronic pancreatitis
- PMID: 33963039
- DOI: 10.1136/gutjnl-2021-324943
NGS mismapping confounds the clinical interpretation of the PRSS1 p.Ala16Val (c.47C>T) variant in chronic pancreatitis
Keywords: chronic pancreatitis; genetics.
Conflict of interest statement
Competing interests: None declared.
Comment in
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Improved NGS variant calling tool for the PRSS1-PRSS2 locus.Gut. 2023 Jan;72(1):210-212. doi: 10.1136/gutjnl-2022-327203. Epub 2022 Mar 14. Gut. 2023. PMID: 35288441 No abstract available.
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Modelling chronic pancreatitis as a complex genetic disease in mice.Gut. 2023 Feb;72(2):409-410. doi: 10.1136/gutjnl-2022-327601. Epub 2022 May 16. Gut. 2023. PMID: 35577534 Free PMC article. No abstract available.
Comment on
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Next generation sequencing pitfalls in diagnosing trypsinogen (PRSS1) mutations in chronic pancreatitis.Gut. 2020 Sep 28:gutjnl-2020-322864. doi: 10.1136/gutjnl-2020-322864. Online ahead of print. Gut. 2020. PMID: 32989020 No abstract available.
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