Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.T94N
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CFTR

NM_000492.4:p.T94N

Associated Papers

Identification of two mutations (S50Y and 4173delC) in the CFTR gene from patients with congenital bilateral absence of vas deferens (CBAVD).

Zielenski J et al.

Human Mutation, 1997

CFTR gene variant for patients with congenital absence of vas deferens.

Zielenski J et al.

American Journal of Human Genetics, 1995

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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."