Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.Q637fs
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CFTR

NM_000492.4:p.Q637fs

Associated Papers

A comprehensive review of cystic fibrosis in Africa and Asia.

Abubakar Bobbo K et al.

Saudi Journal of Biological Sciences, 2023

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_MOESM3_ESM.xls › TableS2

Validation of a semiconductor next-generation sequencing assay for the clinical genetic screening of CFTR.

Trujillano D et al.

Molecular Genetics & Genomic Medicine, 2015

Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.

Unknown Author

Genome Biology, 2015

26112015 (PubMed )
Supplement: 13059_2015_693_MOESM1_ESM.xls › Sheet1
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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."