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European Journal of Human Genetics (2)
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Functional impact of splicing variants in the elaboration of complex traits in cattle

The effects of GWAS-identified variants on splicing may explain their impact on gene expression. Here, the authors use GWAS, bioinformatic and functional analyses to highlight the role splicing variants play in complex traits in cattle.

Mathieu Charles
Nicolas Gaiani
Arnaud Boulling
ResearchOpen Access24 Apr 2025
Nature Communications

Volume: 16, P: 1-20
Nuclear sequences of mitochondrial origin in domestic yak

Mélissa Poncet
Maureen Féménia
Dominique Rocha
ResearchOpen Access03 May 2024
Scientific Reports

Volume: 14, P: 1-6
Functional analysis of pancreatitis-associated missense mutations in the pancreatic secretory trypsin inhibitor (SPINK1) gene

Arnaud Boulling
Cédric Le Maréchal
Claude Férec
Research13 Jun 2007
European Journal of Human Genetics

Volume: 15, P: 936-942
Analysis of the impact of DGAT1 p.M435L and p.K232A variants on pre-mRNA splicing in a full-length gene assay

Nicolas Gaiani
Lorraine Bourgeois-Brunel
Arnaud Boulling
ResearchOpen Access02 Jun 2023
Scientific Reports

Volume: 13, P: 1-11
Assessing the pathological relevance of SPINK1 promoter variants

Arnaud Boulling
Heiko Witt
Claude Férec
ResearchOpen Access25 May 2011
European Journal of Human Genetics

Volume: 19, P: 1066-1073