Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.Y247Y
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CFTR

NM_000492.4:p.Y247Y

Associated Papers

Heterogeneity for mutations in the CFTR gene and clinical correlations in patients with congenital absence of the vas deferens.

Casals T et al.

Human Reproduction (oxford, England), 2000

High heterogeneity for cystic fibrosis in Spanish families: 75 mutations account for 90% of chromosomes.

Casals T et al.

Human Genetics, 1997

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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."