Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.V358I
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CFTR

NM_000492.4:p.V358I

Associated Papers

CFTR pathogenic variants spectrum in a cohort of Mexican patients with cystic fibrosis.

Martínez-Hernández A et al.

Heliyon, 2024

Diversity of CFTR variants across ancestries characterized using 454,727 UK biobank whole exome sequences.

Ideozu JE et al.

Genome Medicine, 2024

38515211 (PubMed )
Supplement: 13073_2024_1316_MOESM1_ESM.xlsx › Table_S1A

CFTR mutations spectrum and the efficiency of molecular diagnostics in Polish cystic fibrosis patients.

Ziętkiewicz E et al.

Plos One, 2014

Extensive sequencing of the CFTR gene: lessons learned from the first 157 patient samples.

McGinniss MJ et al.

Human Genetics, 2005

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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."