Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.L233_A234insT
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CFTR

NM_000492.4:p.L233_A234insT

Associated Papers

Identification and Characterization of a Rare Exon 22 Duplication in CFTR in Two Families.

Ahting S et al.

International Journal of Molecular Sciences, 2025

40429633 (PubMed )
Supplement: ijms-26-04487-s001.zip › CFTR2_25September2024.xlsx › CFTR2_variants_by_legacy_name

The effect of premature termination codon mutations on CFTR mRNA abundance in human nasal epithelium and intestinal organoids: a basis for read-through therapies in cystic fibrosis.

Clarke LA et al.

Human Mutation, 2019

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