NGS mismapping confounds the clinical interpretation of the PRSS1 p.Ala16Val (c.47C>T) variant in chronic pancreatitis

Author:

Génin EmmanuelleORCID,Cooper David N,Masson Emmanuelle,Férec Claude,Chen Jian-MinORCID

Funder

Institut National de la Santé et de la Recherche Médicale (INSERM), France.

Publisher

BMJ

Subject

Gastroenterology

Reference10 articles.

1. Next generation sequencing pitfalls in diagnosing trypsinogen (PRSS1) mutations in chronic pancreatitis;Weiss;Gut,2020

2. Genetic risk factors in chronic pancreatitis. Available: http://www.pancreasgenetics.org/ [Accessed 12 Apr 2021].

3. NIH . NM_002769.5(PRSS1):c.47C>T (p.Ala16Val). Available: https://www.ncbi.nlm.nih.gov/clinvar/variation/38363/ [Accessed 12 Apr 2021].

4. gnomAD . Genome aggregation database. Available: https://gnomad.broadinstitute.org/ [Accessed 12 Apr 2012].

5. Gene Conversion-like Missense Mutations in the Human Cationic Trypsinogen Gene and Insights into the Molecular Evolution of the Human Trypsinogen Family

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