Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.T382I
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CFTR

NM_000492.4:p.T382I

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

Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.

Wang Z et al.

Genome Medicine, 2021

34503567 (PubMed )
Supplement: 13073_2021_964_MOESM6_ESM.xlsx › Sheet1

A haplotype framework for cystic fibrosis mutations in Iran.

Elahi E et al.

The Journal of Molecular Diagnostics : Jmd, 2006

Genotyping microarray for the detection of more than 200 CFTR mutations in ethnically diverse populations.

Schrijver I et al.

The Journal of Molecular Diagnostics : Jmd, 2005

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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."