Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.L1414S
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CFTR

NM_000492.4:p.L1414S

Associated Papers

[Genetic revision of the Hungarian Cystic Fibrosis Registry].

Deák A et al.

Orvosi Hetilap, 2022

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

Final results of the southwest German pilot study on cystic fibrosis newborn screening - Evaluation of an IRT/PAP protocol with IRT-dependent safety net.

Sommerburg O et al.

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

Do common in silico tools predict the clinical consequences of amino-acid substitutions in the CFTR gene?

Dorfman R et al.

Clinical Genetics, 2010

A 10-year large-scale cystic fibrosis carrier screening in the Italian population.

Picci L et al.

Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2010

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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."