Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.R55Splc
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CFTR

NM_000492.4:p.R55Splc

Associated Papers

Prenatal diagnosis of rare genetic disorders: fourteen years' experience of a tertiary genetic centre from India.

Sheth J et al.

Orphanet Journal of Rare Diseases, 2025

40898337 (PubMed )
Supplement: 13023_2025_4003_MOESM4_ESM.xlsx › Pulmonary

Clinical and genetic profiles of paediatric patients with cystic fibrosis from Western India.

Chandane P et al.

Lung India : Official Organ of Indian Chest Society, 2025

A comprehensive review of cystic fibrosis in Africa and Asia.

Abubakar Bobbo K et al.

Saudi Journal of Biological Sciences, 2023

Systematic estimation of cystic fibrosis prevalence in Chinese and genetic spectrum comparison to Caucasians.

Ni Q et al.

Orphanet Journal of Rare Diseases, 2022

35313924 (PubMed )
Supplement: 13023_2022_2279_MOESM3_ESM.xls › TableS2

Clinical, genetic and microbiological characterization of pediatric patients with cystic fibrosis in a public Hospital in Ecuador.

Lascano-Vaca Y et al.

Bmc Pediatrics, 2020

Spectrum of mutations of cystic fibrosis in the 22 Arab countries: A systematic review.

Al-Sadeq D et al.

Respirology (carlton, Vic.), 2019

An Evaluation of Factors Associated With Pathogenic PRSS1, SPINK1, CTFR, and/or CTRC Genetic Variants in Patients With Idiopathic Pancreatitis.

Jalaly NY et al.

The American Journal of Gastroenterology, 2017

The first case report of double homozygous of 2 different mutations in the CFTR gene in Saudi Arabia.

Banjar H et al.

International Journal of Pediatrics & Adolescent Medicine, 2017

Validation of a semiconductor next-generation sequencing assay for the clinical genetic screening of CFTR.

Trujillano D et al.

Molecular Genetics & Genomic Medicine, 2015

Genotype patterns for mutations of the cystic fibrosis transmembrane conductance regulator gene: a retrospective descriptive study from Saudi Arabia.

Banjar HH et al.

Annals of Saudi Medicine, 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."