Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.G628E
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CFTR

NM_000492.4:p.G628E

Associated Papers

Characterization of 223 infants with CFTR-related metabolic syndrome/Cystic fibrosis screen positive, inconclusive diagnosis (CRMS/CFSPID) identified during the first three years of newborn screening via IRT-DNA-SEQ in New York State.

Sadeghi H et al.

Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2025

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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."