Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.L1096R
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CFTR

NM_000492.4:p.L1096R

Associated Papers

Haplotype block structure study of the CFTR gene. Most variants are associated with the M470 allele in several European populations.

Pompei F et al.

European Journal of Human Genetics : Ejhg, 2006

A large-scale study of the random variability of a coding sequence: a study on the CFTR gene.

Modiano G et al.

European Journal of Human Genetics : Ejhg, 2005

A combined analysis of the cystic fibrosis transmembrane conductance regulator: implications for structure and disease models.

Chen JM et al.

Molecular Biology and Evolution, 2001

A new approach for identifying non-pathogenic mutations. An analysis of the cystic fibrosis transmembrane regulator gene in normal individuals.

Bombieri C et al.

Human Genetics, 2000

Complete mutational screening of the cystic fibrosis transmembrane conductance regulator gene: cystic fibrosis mutations are not involved in healthy men with reduced sperm quality.

Pallares-Ruiz N et al.

Human Reproduction (oxford, England), 1999

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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."