Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.G551_Q552del1
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CFTR

NM_000492.4:p.G551_Q552del1

Associated Papers

Mutation nomenclature in practice: findings and recommendations from the cystic fibrosis external quality assessment scheme.

Berwouts S et al.

Human Mutation, 2011

Phenotype and genotype of two Taiwanese cystic fibrosis siblings and a survey of delta F508 in East Asians.

Lin CJ et al.

Pediatrics and Neonatology, 2008

The role of common single-nucleotide polymorphisms on exon 9 and exon 12 skipping in nonmutated CFTR alleles.

Steiner B et al.

Human Mutation, 2004

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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."