Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.A566T
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CFTR

NM_000492.4:p.A566T

Associated Papers

Development of Engineered-U1 snRNA Therapies: Current Status.

Gonçalves M et al.

International Journal of Molecular Sciences, 2023

Rescue of Rare CFTR Trafficking Mutants Highlights a Structural Location-Dependent Pattern for Correction.

Zacarias S et al.

International Journal of Molecular Sciences, 2023

36834620 (PubMed )
Supplement: ijms-24-03211-s001.zip › ijms-2071953-supplementary.pdf

Role of Splicing Regulatory Elements and In Silico Tools Usage in the Identification of Deep Intronic Splicing Variants in Hereditary Breast/Ovarian Cancer Genes.

Moles-Fernández A et al.

Cancers, 2021

34283047 (PubMed )
Supplement: cancers-13-03341-s001.zip › 2_Supplementary_table_S2A_2B.xlsx › Suppl_Table_2A

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

Fernandez Alanis E et al.

Human Molecular Genetics, 2012

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."