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Genotype-Phenotype Correlation in Children With Cystic Fibrosis From India: A Multicentric Study.

Clinical genetics - 1 Mar 2026

Jat Kana Ram, Chowdhury Madhumita Roy, Dhochak Nitin, Lodha Rakesh, Varkki Sneha, Kumar Prawin, Goyal Jagdish, Bhatt Javeed Iqbal, Kabra S K

Abstract excerpt

The study aimed to report genotype-phenotype correlation in children with cystic fibrosis. This prospective multicentric study was done at four centres. Variants were tested for two common variants, followed by exome sequencing using NGS. Patients with cystic fibrosis who have one or more pathogenic/likely pathogenic variants were included in this study. The study included 260 children. Boys were more common...

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PMID: 40963488
DOI: 10.1111/cge.70063

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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