Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.K684fs
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CFTR

NM_000492.4:p.K684fs

Associated Papers

Discovering Hereditary Risk Through Surveillance: A Prospective Genetic Analysis of Individuals With Familial Pancreatic Cancer.

Paiella S et al.

United European Gastroenterology Journal, 2026

A comprehensive review of cystic fibrosis in Africa and Asia.

Abubakar Bobbo K et al.

Saudi Journal of Biological Sciences, 2023

The CFTR Gene Germline Heterozygous Pathogenic Variants in Russian Patients with Malignant Neoplasms and Healthy Carriers: 11,800 WGS Results.

Makarova M et al.

International Journal of Molecular Sciences, 2023

Multicenter Surveillance of Cystic Fibrosis in Korean Children.

Kim HY et al.

Allergy, Asthma & Immunology Research, 2022

Analysis of the genotypic profile and its relationship with the clinical manifestations in people with cystic fibrosis: study from a rare disease registry.

Rueda-Nieto S et al.

Orphanet Journal of Rare Diseases, 2022

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

Current Status of Genetic Diagnosis Laboratories and Frequency of Genetic Variants Associated with Cystic Fibrosis through a Newborn-Screening Program in Turkey.

Bozdogan ST et al.

Genes, 2021

Frequency of CFTR variants in southern Brazil and indication for modulators therapy in patients with cystic fibrosis.

Lima EDS et al.

Genetics and Molecular Biology, 2021

CFTR genotype-related body water and electrolyte balance during a marathon.

Del Coso J et al.

Scandinavian Journal of Medicine & Science in Sports, 2016

Outcomes of a cystic fibrosis carrier testing clinic for couples.

Christie LM et al.

The Medical Journal of Australia, 2009

Evaluation and use of a synthetic quality control material, included in the European external quality assessment scheme for cystic fibrosis.

Berwouts S et al.

Human Mutation, 2008

Spectrum of mutations in CFTR in Finland: 18 years follow-up study and identification of two novel mutations.

Kinnunen S et al.

Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2005

Intrahepatic Cholangiolitis in Cystic Fibrosis (ICCF): An Under-Appreciated Cause of Persistent Cholestasis in Infancy.

Bernieh A et al.

Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 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."