Associated Papers
NGS-based expanded carrier screening for genetic disorders in North Indian population reveals unexpected results - a pilot study.
Singh K et al.
Bmc Medical Genetics, 2020
A Novel Pathogenic Variant of the CFTR Gene in a Patient with Cystic Fibrosis Phenotype-c.4096A > T.
Arslan AB et al.
Journal of Pediatric Genetics, 2020
Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis.
Pol A et al.
Nature Genetics, 2018
29255262 (PubMed )
Supplement: NIHMS74866-supplement-Supplementary_table_1.xlsx › EXAC_CFTR
Lack of association of common cystic fibrosis transmembrane conductance regulator gene mutations with primary sclerosing cholangitis.
Gallegos-Orozco JF et al.
The American Journal of Gastroenterology, 2005
Increased prevalence of CFTR mutations and variants and decreased chloride secretion in primary sclerosing cholangitis.
Sheth S et al.
Human Genetics, 2003
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