Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.G330E
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CFTR

NM_000492.4:p.G330E

Associated Papers

CFTR-Related Metabolic Syndrome: Genetic Variants Increasing Pancreatitis Risk in the Pediatric Puerto Rican Population.

Meléndez-Montañez JM et al.

Children (basel, Switzerland), 2023

Clinical, genetic and microbiological characterization of pediatric patients with cystic fibrosis in a public Hospital in Ecuador.

Lascano-Vaca Y et al.

Bmc Pediatrics, 2020

Spectrum of CFTR gene mutations in Ecuadorian cystic fibrosis patients: the second report of the p.H609R mutation.

Ortiz SC et al.

Molecular Genetics & Genomic Medicine, 2017

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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."