Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.I1000fs
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CFTR

NM_000492.4:p.I1000fs

Associated Papers

Exploring the diversity of CFTR gene mutations in cystic fibrosis individuals of South Asia.

Rafique H et al.

The Journal of Asthma : Official Journal of the Association for the Care of Asthma, 2024

38153325 (PubMed )
Supplement: supplement_1.docx

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

Evaluation of clinical and genetic characteristics of cystic fibrosis patients in the Southeastern Anatolia of Turkey.

Arik E et al.

Pediatrics International : Official Journal of the Japan Pediatric 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."