Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.C128R
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CFTR

NM_000492.4:p.C128R

Associated Papers

Clinical and genetic profiles of paediatric patients with cystic fibrosis from Western India.

Chandane P et al.

Lung India : Official Organ of Indian Chest Society, 2025

A 10-year large-scale cystic fibrosis carrier screening in the Italian population.

Picci L et al.

Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2010

DNA diagnosis of single gene disorders in patients of non-European origin: experience from Kuwait.

Samilchuk E

Community 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."