Literature DB >> 33963039

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

Emmanuelle Génin1,2, David N Cooper3, Emmanuelle Masson1,2, Claude Férec1,2, Jian-Min Chen4.   

Abstract

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Keywords:  chronic pancreatitis; genetics

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Year:  2021        PMID： 33963039     DOI： 10.1136/gutjnl-2021-324943

Source DB:  PubMed          Journal:  Gut        ISSN： 0017-5749            Impact factor:   23.059


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  1 in total

1.  Expanding ACMG variant classification guidelines into a general framework.

Authors:  Emmanuelle Masson; Wen-Bin Zou; Emmanuelle Génin; David N Cooper; Gerald Le Gac; Yann Fichou; Na Pu; Vinciane Rebours; Claude Férec; Zhuan Liao; Jian-Min Chen
Journal:  Hum Genomics       Date:  2022-08-16       Impact factor: 6.481
  1 in total

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