Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.Q1071H
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CFTR

NM_000492.4:p.Q1071H

Associated Papers

Newborn Screening Program for Cystic Fibrosis in Türkiye: Experiences from False-Negative Tests and Requirement for Optimization

Çoksüer F et al.

Balkan Medical Journal, 2025

Can two wrongs make a right? F508del-CFTR ion channel rescue by second-site mutations in its transmembrane domains.

Prins S et al.

The Journal of Biological Chemistry, 2022

35065958 (PubMed )
Supplement: mmc1.docx

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."