Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.E831fs
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CFTR

NM_000492.4:p.E831fs

Associated Papers

Mutational spectrum of CFTR in cystic fibrosis patients with gastrointestinal and hepatobiliary manifestations.

Waheed N et al.

Molecular Biology Reports, 2024

A Unique Mutation in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Gene Causing Cystic Fibrosis in a Pakistani Child: A Case Highlighting the Need for More Awareness.

Yavuz S et al.

Cureus, 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."