Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.L32P
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CFTR

NM_000492.4:p.L32P

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

Benchmarking AlphaMissense Pathogenicity Predictions Against Cystic Fibrosis Variants.

McDonald EF et al.

Biorxiv : the Preprint Server for Biology, 2024

37873426 (PubMed )
Supplement: media-4.xlsx › Sheet1

Benchmarking AlphaMissense pathogenicity predictions against cystic fibrosis variants.

McDonald EF et al.

Plos One, 2024

38271453 (PubMed )
Supplement: pone.0297560.s010.xlsx › Supp_Table_3

A comprehensive review of cystic fibrosis in Africa and Asia.

Abubakar Bobbo K et al.

Saudi Journal of Biological Sciences, 2023

Molecular dynamics and functional characterization of I37R-CFTR lasso mutation provide insights into channel gating activity.

Wong SL et al.

Iscience, 2022

35072004 (PubMed )
Supplement: mmc2.xlsx › Table_S1

A review of cystic fibrosis: Basic and clinical aspects.

Chen Q et al.

Animal Models and Experimental Medicine, 2021

Whole-Exome Sequencing Identified CFTR Variants in Two Consanguineous Families in China.

Yang B et al.

Frontiers in Genetics, 2021

34276759 (PubMed )
Supplement: Data_Sheet_1.docx

A systematic review of the clinical and genetic characteristics of Chinese patients with cystic fibrosis.

Shi R et al.

Pediatric Pulmonology, 2020

c.753_754delAG, a novel CFTR mutation found in a Chinese patient with cystic fibrosis: A case report and review of the literature.

Wang YQ et al.

World Journal of Clinical Cases, 2019

Liver Failure in a Chinese Cystic Fibrosis Child With Homozygous R553X Mutation.

Li H et al.

Frontiers in Pediatrics, 2019

Four case reports of Chinese cystic fibrosis patients and literature review.

Xu J et al.

Pediatric Pulmonology, 2017

Differences in gene mutations between Chinese and Caucasian cystic fibrosis patients.

Zheng B et al.

Pediatric Pulmonology, 2017

CFTR founder mutation causes protein trafficking defects in Chinese patients with cystic fibrosis.

Leung GK et al.

Molecular Genetics & Genomic Medicine, 2017

p.G970D is the most frequent CFTR mutation in Chinese patients with cystic fibrosis.

Tian X et al.

Human Genome Variation, 2016

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

Singh M et al.

Respirology (carlton, Vic.), 2015

Characterization of gene mutations and phenotypes of cystic fibrosis in Chinese patients.

Liu Y et al.

Respirology (carlton, Vic.), 2015

Estimating the relative risk of developing melanoma in INK4A carriers.

Berwick M et al.

European Journal of Cancer Prevention : the Official Journal of the European Cancer Prevention Organisation (ecp), 2004

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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."