Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.Y325*
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CFTR

NM_000492.4:p.Y325*

Associated Papers

Rectal organoid morphology analysis (ROMA) as a novel physiological assay for diagnostic classification in cystic fibrosis.

Cuyx S et al.

Thorax, 2024

Clinical characteristics and genetic mutations of 10 Chinese children with cystic fibrosis or cystic frbrosis transmembrane conductance regulator-related disorders.

Tan S et al.

Chinese Medical Journal, 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."