Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.A1081P
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CFTR

NM_000492.4:p.A1081P

Associated Papers

Cystic fibrosis in Vietnam and Southeast Asia: underdiagnosis and genetic spectrum.

Cao-Pham HG et al.

Journal of Community Genetics, 2025

Heterogeneous spectrum of CFTR gene mutations in Chinese patients with CAVD and the dilemma of genetic blocking strategy.

Feng J et al.

Reproduction (cambridge, England), 2022

Novel mutations and polymorphisms in the CFTR gene associated with three subtypes of congenital absence of vas deferens.

Yang X et al.

Fertility and Sterility, 2015

A novel missense mutation A1081P in the cystic fibrosis transmembrane conductance regulator (CFTR) gene identified in a Laotian patient with congenital bilateral absence of the vas deferens.

Ngukam A et al.

Journal of Tropical Pediatrics, 2004

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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."