Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.L34_Q39del0
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CFTR

NM_000492.4:p.L34_Q39del0

Associated Papers

Molecular dynamics and functional characterization of I37R-CFTR lasso mutation provide insights into channel gating activity.

Wong SL et al.

Iscience, 2022

35072004 (PubMed )
Supplement: mmc2.xlsx › Table_S1

Next-Generation Sequencing for Molecular Diagnosis of Cystic Fibrosis in a Brazilian Cohort.

Cambraia A et al.

Disease Markers, 2021

Identification of a novel large deletion and other copy number variations in the CFTR gene in patients with Cystic Fibrosis from a multiethnic population.

Martins RDS et al.

Molecular Genetics & Genomic Medicine, 2019

Identification and frequencies of cystic fibrosis mutations in central Argentina.

Pepermans X et al.

Clinical Biochemistry, 2016

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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."