Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.A412_K413insACT
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CFTR

NM_000492.4:p.A412_K413insACT

Associated Papers

Targeted sequencing reveals complex, phenotype-correlated genotypes in cystic fibrosis.

Ivanov M et al.

Bmc Medical Genomics, 2018

[Reliability of the Search for 19 Common Mutations in the CFTR Gene in Russian Cystic Fibrosis Patients and the Calculated Frequency of the Disease in Russian Federation].

Stepanova AA et al.

Genetika, 2016

CFTR mutations spectrum and the efficiency of molecular diagnostics in Polish cystic fibrosis patients.

Ziętkiewicz E et al.

Plos One, 2014

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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."