Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.G551_Q552delFs
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CFTR

NM_000492.4:p.G551_Q552delFs

Associated Papers

CFTR mutation analysis of a Caucasian father with congenital bilateral absence of vas deferens, a Taiwanese mother, and twins resulting from ICSI procedure.

Chiang HS et al.

Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2008

Detection of CFTR mutations using temporal temperature gradient gel electrophoresis.

Wong LJ et al.

Electrophoresis, 2004

Comparison of the CFTR mutation spectrum in three cohorts of patients of Celtic origin from Brittany (France) and Ireland.

Scotet V et al.

Human Mutation, 2003

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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."