Associated Papers
Analysis of the Genome Aggregation Database (gnomAD) reveals a global burden of cystic fibrosis and the need for improved diagnosis and care.
Bar L et al.
Ebiomedicine, 2026
Benchmarking AlphaMissense Pathogenicity Predictions Against Cystic Fibrosis Variants.
McDonald EF et al.
Biorxiv : the Preprint Server for Biology, 2024
37873426 (PubMed )
Supplement: media-3.xlsx › Sheet1
Benchmarking AlphaMissense pathogenicity predictions against cystic fibrosis variants.
McDonald EF et al.
Plos One, 2024
38271453 (PubMed )
Supplement: pone.0297560.s009.xlsx › Supp_Table_2
Clinical and genetic features of cystic fibrosis in Japan.
Kozawa Y et al.
Journal of Human Genetics, 2023
A comprehensive review of cystic fibrosis in Africa and Asia.
Abubakar Bobbo K et al.
Saudi Journal of Biological Sciences, 2023
Multicenter Surveillance of Cystic Fibrosis in Korean Children.
Kim HY et al.
Allergy, Asthma & Immunology Research, 2022
Etiologic distribution and clinical characteristics of pediatric diabetes in 276 children and adolescents with diabetes at a single academic center.
Kim JH et al.
Bmc Pediatrics, 2021
Currently favored sampling practices for tumor sequencing can produce optimal results in the clinical setting.
Pongor LS et al.
Scientific Reports, 2020
32873813 (PubMed )
Supplement: 41598_2020_71382_MOESM6_ESM.xlsx › HR-deficient_PALB2_mutant
CFTR trafficking mutations disrupt cotranslational protein folding by targeting biosynthetic intermediates.
Shishido H et al.
Nature Communications, 2020
The First Successful Lung Transplantation in a Korean Child with Cystic Fibrosis.
Noh SR et al.
Journal of Korean Medical Science, 2017
Erratum: Heterogeneous spectrum of CFTR gene mutations in Korean patients with cystic fibrosis.
Unknown Author
Annals of Laboratory Medicine, 2015
Heterogeneous spectrum of CFTR gene mutations in Korean patients with cystic fibrosis.
Jung H et al.
The Korean Journal of Laboratory Medicine, 2011
The L441P mutation of cystic fibrosis transmembrane conductance regulator and its molecular pathogenic mechanisms in a Korean patient with cystic fibrosis.
Gee HY et al.
Journal of Korean Medical Science, 2010
Genetic evidence for CFTR dysfunction in Japanese: background for chronic pancreatitis.
Fujiki K et al.
Journal of Medical Genetics, 2004
A finger sweat chloride test for the detection of a high-risk group of chronic pancreatitis.
Naruse S et al.
Pancreas, 2004
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