Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.I530L
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CFTR

NM_000492.4:p.I530L

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

Spectrum and distribution of CFTR gene mutations in asthma and chronic pancreatitis cases of North Indian population.

Muthuswamy S et al.

Gene, 2014

Molecular basis of cystic fibrosis disease: an Indian perspective.

Prasad R et al.

Indian Journal of Clinical Biochemistry : Ijcb, 2010

Identification and characterization of CFTR gene mutations in Indian CF patients.

Sharma N et al.

Annals of Human Genetics, 2009

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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."