Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.M1028I
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CFTR

NM_000492.4:p.M1028I

Associated Papers

Cystic fibrosis risk variants confer protection against inflammatory bowel disease.

Yu M et al.

Cell Genomics, 2025

41330381 (PubMed )
Supplement: mmc3.xlsx › Sheet1

Cystic fibrosis risk variants confer protection against inflammatory bowel disease.

Yu M et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

39677473 (PubMed )
Supplement: media-1.xlsx › ST3

Analysis of rearrangements of the CFTR gene in patients from Turkey with CFTR-related disorders: frequent exon 2 deletion.

Duz MB et al.

Journal of Human Genetics, 2021

Cystic fibrosis in Turkey: First data from the national registry.

Dogru D et al.

Pediatric Pulmonology, 2020

Epidemiology and genetics of cystic fibrosis in Asia: In preparation for the next-generation treatments.

Singh M et al.

Respirology (carlton, Vic.), 2015

Mutations in CFTR gene and clinical correlation in Argentine patients with congenital bilateral absence of the vas deferens.

Levy EM et al.

Medicina, 2004

The phenotypic consequences of CFTR mutations.

Rowntree RK et al.

Annals of Human Genetics, 2003

History and origin of beta-thalassemia in Turkey: sequence haplotype diversity of beta-globin genes.

Tadmouri GO et al.

Human Biology, 2001

Cystic fibrosis mutations and associated haplotypes in Turkish cystic fibrosis patients.

Onay T et al.

Human Biology, 2001

A novel missense mutation, S1159F, in exon 19 of the CFTR gene.

Seydewitz HH et al.

Human Mutation, 2000

Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe.

Dörk T et al.

Human Genetics, 2000

Cystic fibrosis mutations in Israeli Arab patients.

Laufer-Cahana A et al.

Human Mutation, 1999

Analysis of infertile brothers with congenital bilateral absence of vas deferens for mutations in the CFTR gene.

Onay T et al.

Clinical Genetics, 1999

Missense mutations in the cystic fibrosis gene in adult patients with asthma.

Lázaro C et al.

Human Mutation, 1999

Analysis of the CFTR gene in Turkish cystic fibrosis patients: identification of three novel mutations (3172delAC, P1013L and M1028I).

Onay T et al.

Human Genetics, 1998

[The mutation spectrum of the CFTR gene in mucoviscidosis patients from Bashkortostan].

Korytina GF et al.

Molekuliarnaia Biologiia, 0

Clinical, andrological and genetic characteristics of patients with congenital bilateral absence of vas deferens (CBAVD).

Samli H et al.

Archives of Andrology, 0

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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."