Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.I132M
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CFTR

NM_000492.4:p.I132M

Associated Papers

Diversity of CFTR variants across ancestries characterized using 454,727 UK biobank whole exome sequences.

Ideozu JE et al.

Genome Medicine, 2024

38515211 (PubMed )
Supplement: 13073_2024_1316_MOESM1_ESM.xlsx › Table_S1A

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

IL8 gene as modifier of cystic fibrosis: unraveling the factors which influence clinical variability.

Furlan LL et al.

Human Genetics, 2016

Haplotype block structure study of the CFTR gene. Most variants are associated with the M470 allele in several European populations.

Pompei F et al.

European Journal of Human Genetics : Ejhg, 2006

A large-scale study of the random variability of a coding sequence: a study on the CFTR gene.

Modiano G et al.

European Journal of Human Genetics : Ejhg, 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."