Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.Y28_R29insFs
Back to variants list

CFTR

NM_000492.4:p.Y28_R29insFs

Associated Papers

High-throughput carrier screening using TaqMan allelic discrimination.

Fedick A et al.

Plos One, 2013

Parkinsonism among Gaucher disease carriers.

Goker-Alpan O et al.

Journal of Medical Genetics, 2004

Exhaustive screening of the acid beta-glucosidase gene, by fluorescence-assisted mismatch analysis using universal primers: mutation profile and genotype/phenotype correlations in Gaucher disease.

Germain DP et al.

American Journal of Human Genetics, 1998

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."