Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.W1098L
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CFTR

NM_000492.4:p.W1098L

Associated Papers

Newborn Screening Program for Cystic Fibrosis in Türkiye: Experiences from False-Negative Tests and Requirement for Optimization

Çoksüer F et al.

Balkan Medical Journal, 2025

Beyond the 10%: Unraveling the genetic diversity in Turkish cystic fibrosis patients not eligible for CFTR modulators.

Yıldız CA et al.

Pediatric Pulmonology, 2024

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

Novel mutations and deletions in cystic fibrosis in a tertiary cystic fibrosis center in Istanbul.

Atag E et al.

Pediatric Pulmonology, 2019

Diversity of the basic defect of homozygous CFTR mutation genotypes in humans.

Stanke F et al.

Journal of Medical Genetics, 2008

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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."