Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.H856insFs
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CFTR

NM_000492.4:p.H856insFs

Associated Papers

Detection of the deltaF508 (F508del) mutation of the cystic fibrosis gene by surface plasmon resonance and biosensor technology.

Feriotto G et al.

Human Mutation, 1999

Sensitivity of the denaturing gradient gel electrophoresis technique in detection of known mutations and novel Asian mutations in the CFTR gene.

Macek M et al.

Human Mutation, 1997

Nine mutations in the cystic fibrosis (CF) gene account for 80% of the CF chromosomes in French patients.

Simon-Bouy B et al.

Clinical Genetics, 1991

The incidence of different cystic fibrosis mutations in the Scottish population: effects on prenatal diagnosis and genetic counselling.

Shrimpton AE et al.

Journal of Medical Genetics, 1991

Molecular genetics of cystic fibrosis.

Tsui LC et al.

Advances in Experimental Medicine and Biology, 1991

A child, homozygous for a stop codon in exon 11, shows milder cystic fibrosis symptoms than her heterozygous nephew.

Cuppens H et al.

Journal of Medical Genetics, 1990

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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."