Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.P1072L
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CFTR

NM_000492.4:p.P1072L

Associated Papers

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

Complete mutational screening of the CFTR gene in 120 patients with pulmonary disease.

Bombieri C et al.

Human Genetics, 1998

CFTR gene variant IVS8-5T in disseminated bronchiectasis.

Pignatti PF et al.

American Journal of Human Genetics, 1996

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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."