Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.S589Splc
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CFTR

NM_000492.4:p.S589Splc

Associated Papers

Development of Engineered-U1 snRNA Therapies: Current Status.

Gonçalves M et al.

International Journal of Molecular Sciences, 2023

A comprehensive review of cystic fibrosis in Africa and Asia.

Abubakar Bobbo K et al.

Saudi Journal of Biological Sciences, 2023

Genetic mutation analysis of 22 patients with congenital absence of vas deferens: a single-center study†.

Tan MQ et al.

Biology of Reproduction, 2022

CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants.

Claustres M et al.

Human Mutation, 2017

A classification model relative to splicing for variants of unknown clinical significance: application to the CFTR gene.

Raynal C et al.

Human Mutation, 2013

An exon-specific U1 small nuclear RNA (snRNA) strategy to correct splicing defects.

Fernandez Alanis E et al.

Human Molecular Genetics, 2012

22362925 (PubMed )
Supplement: supp_dds045_dds045supp.doc

CFTR and/or pancreatitis susceptibility genes mutations as risk factors of pancreatitis in cystic fibrosis patients?

Gaitch N et al.

Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 0

Spectrum of CFTR gene sequence variants in a northern Portugal population.

Grangeia A et al.

Pulmonology, 0

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