Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.R516Fs
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CFTR

NM_000492.4:p.R516Fs

Associated Papers

Genetic Variants and Clinical Characteristics in the Diagnosis of Children Aged Under 18 Years With Cystic Fibrosis in a Brazilian State.

Arpini LDSB et al.

Pediatric Pulmonology, 2025

Diagnosis of cystic fibrosis: a high heterogeneity of symptoms and genotypes in a Brazil population.

Meneses DG et al.

Bmc Pediatrics, 2024

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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."