Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.K1200E
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CFTR

NM_000492.4:p.K1200E

Associated Papers

Genotyping microarray for the detection of more than 200 CFTR mutations in ethnically diverse populations.

Schrijver I et al.

The Journal of Molecular Diagnostics : Jmd, 2005

Cystic fibrosis: a worldwide analysis of CFTR mutations--correlation with incidence data and application to screening.

Bobadilla JL et al.

Human Mutation, 2002

Distribution of CFTR gene mutations in cystic fibrosis patients from Estonia.

Teder M et al.

Journal of Medical Genetics, 2000

Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France.

Claustres M et al.

Human Mutation, 2000

Complex mutation 4114 ATA-->TT in exon 22 of the cystic fibrosis gene CFTR.

Dörk T et al.

Human Mutation, 1993

A rapid, efficient, and sensitive assay for simultaneous detection of multiple cystic fibrosis mutations.

Costes B et al.

Human Mutation, 1993

Mutations and sequence variations detected in the cystic fibrosis transmembrane conductance regulator (CFTR) gene: a report from the Cystic Fibrosis Genetic Analysis Consortium.

Tsui LC

Human Mutation, 1992

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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."