Literature DB >> 28320769

In vitro and in silico evidence against a significant effect of the SPINK1 c.194G>A variant on pre-mRNA splicing.

Hao Wu1,2,3,4, Arnaud Boulling2,3, David N Cooper5, Zhao-Shen Li1,4, Zhuan Liao1,4, Jian-Min Chen2,3,6, Claude Férec2,3,6,7.   

Abstract

Entities:  

Keywords:  CHRONIC PANCREATITIS; GENE MUTATION; GENETICS; GENOTYPE

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Year:  2017        PMID： 28320769     DOI： 10.1136/gutjnl-2017-313948

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


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  2 in total

1.  The Experimentally Obtained Functional Impact Assessments of 5' Splice Site GT'GC Variants Differ Markedly from Those Predicted.

Authors:  Jian-Min Chen; Jin-Huan Lin; Emmanuelle Masson; Zhuan Liao; Claude Férec; David N Cooper; Matthew Hayden
Journal:  Curr Genomics       Date:  2020-01       Impact factor: 2.236

2.  Analysis of the Impact of Known SPINK1 Missense Variants on Pre-mRNA Splicing and/or mRNA Stability in a Full-Length Gene Assay.

Authors:  Hao Wu; Arnaud Boulling; David N Cooper; Zhao-Shen Li; Zhuan Liao; Claude Férec; Jian-Min Chen
Journal:  Genes (Basel)       Date:  2017-10-10       Impact factor: 4.096
  2 in total

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