Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.E1321_V1322Splc
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CFTR

NM_000492.4:p.E1321_V1322Splc

Associated Papers

Post-approval studies with the CFTR modulators Elexacaftor-Tezacaftor-Ivacaftor.

Tümmler B

Frontiers in Pharmacology, 2023

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

A classification model relative to splicing for variants of unknown clinical significance: application to the CFTR gene.

Raynal C et al.

Human Mutation, 2013

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."