Potential dysfunctional effects of synonymous variants: Insights from an exhaustive in silico analysis of the ABCB4 gene-Reference-Cited by-同舟云学术

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Potential dysfunctional effects of synonymous variants: Insights from an exhaustive in silico analysis of the ABCB4 gene

Published:2018-08-05 Issue:6 Volume:82 Page:457-468
ISSN:0003-4800
Container-title:Annals of Human Genetics
language:en
Short-container-title:Annals of Human Genetics

Author:

Khabou Boudour¹^ORCID,Tabebi Mouna²,Siala‐Sahnoun Olfa¹,Mkaouar‐Rebai Emna¹,Rebai Ahmed³,Fakhfakh Faiza¹

Affiliation:

1. Laboratory of Molecular and Functional Genetics, Faculty of Sciences University of Sfax, Tunisia

2. Department of clinical and experimental medicine, Faculty of health sciences Linköping University Sweden

3. Molecular and Cellular Screening Process Laboratory Centre of Biotechnology of Sfax Sfax Tunisia

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/ahg.12276

Reference49 articles.

1. Effect of single nucleotide polymorphisms on expression of the gene encoding thrombin-activatable fibrinolysis inhibitor: a functional analysis

2. A synonymous polymorphic variation in ACADM exon 11 affects splicing efficiency and may affect fatty acid oxidation

3. A synonymous variant in IRGM alters a binding site for miR-196 and causes deregulation of IRGM-dependent xenophagy in Crohn's disease

4. Missense mutations and single nucleotide polymorphisms in ABCB11 impair bile salt export pump processing and function or disrupt pre-messenger RNA splicing

5. ESEfinder: a web resource to identify exonic splicing enhancers

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