Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.Y515fs
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CFTR

NM_000492.4:p.Y515fs

Associated Papers

Additional evidence on the phenotype produced by combination of CFTR 1677delTA alleles and their relevance in causing CFTR-related disease.

Tkemaladze T et al.

Sage Open Medical Case Reports, 2023

Genotype-phenotype correlations of cystic fibrosis in siblings compound heterozygotes for rare variant combinations: Review of literature and case report.

Tkemaladze T et al.

Respiratory Medicine Case Reports, 2022

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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."