Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.Q1352E
Back to variants list

CFTR

NM_000492.4:p.Q1352E

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

One-step NGS molecular analysis of the CFTR gene on newborn dried blood spots gives a higher diagnostic sensitivity in affected and carrier subjects: A pilot study.

Nunziato M et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2024

Co-Occurrence of Beckwith-Wiedemann Syndrome and Early-Onset Colorectal Cancer.

Cecere F et al.

Cancers, 2023

C FTR variants are associated with chronic bronchitis in smokers.

Saferali A et al.

The European Respiratory Journal, 2022

Cystic Fibrosis-Screening Positive Inconclusive Diagnosis: Newborn Screening and Long-Term Follow-Up Permits to Early Identify Patients with CFTR-Related Disorders.

Castaldo A et al.

Diagnostics (basel, Switzerland), 2020

32784480 (PubMed )
Supplement: diagnostics-10-00570-s001.zip › supple › Supplemental_Table_2.pdf

Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis.

Pol A et al.

Nature Genetics, 2018

29255262 (PubMed )
Supplement: NIHMS74866-supplement-Supplementary_table_1.xlsx › EXAC_CFTR

A 10-year large-scale cystic fibrosis carrier screening in the Italian population.

Picci L et al.

Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2010

A mutation in CFTR modifies the effects of the adenylate kinase inhibitor Ap5A on channel gating.

Dong Q et al.

Biophysical Journal, 2008

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."