Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.H897H
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CFTR

NM_000492.4:p.H897H

Associated Papers

Systematic estimation of cystic fibrosis prevalence in Chinese and genetic spectrum comparison to Caucasians.

Ni Q et al.

Orphanet Journal of Rare Diseases, 2022

35313924 (PubMed )
Supplement: 13023_2022_2279_MOESM1_ESM.xls › TableS1_CFTR_sites

Codon bias and the folding dynamics of the cystic fibrosis transmembrane conductance regulator.

Bartoszewski R et al.

Cellular & Molecular Biology Letters, 2016

28536625 (PubMed )
Supplement: 11658_2016_25_MOESM3_ESM.xlsx › Sheet2

Cystic fibrosis in Lebanon: distribution of CFTR mutations among Arab communities.

Desgeorges M et al.

Human Genetics, 1997

Extensive sequencing of the cystic fibrosis transmembrane regulator gene: assay validation and unexpected benefits of developing a comprehensive test.

Strom CM et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 0

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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."