Associated Papers
Benchmarking AlphaMissense Pathogenicity Predictions Against Cystic Fibrosis Variants.
McDonald EF et al.
Biorxiv : the Preprint Server for Biology, 2024
37873426 (PubMed )
Supplement: media-3.xlsx › Sheet1
Benchmarking AlphaMissense pathogenicity predictions against cystic fibrosis variants.
McDonald EF et al.
Plos One, 2024
38271453 (PubMed )
Supplement: pone.0297560.s009.xlsx › Supp_Table_2
Heterogeneous spectrum of CFTR gene mutations in Chinese patients with CAVD and the dilemma of genetic blocking strategy.
Feng J et al.
Reproduction (cambridge, England), 2022
Frequency of allele variations in the CFTR gene in a Mexican population.
Cantú-Reyna C et al.
Bmc Medical Genomics, 2021
34740355 (PubMed )
Supplement: 12920_2021_1111_MOESM1_ESM.xlsx › Hoja1
Whole-Exome Sequencing on Circulating Tumor Cells Explores Platinum-Drug Resistance Mutations in Advanced Non-small Cell Lung Cancer.
Chang Y et al.
Frontiers in Genetics, 2021
34616428 (PubMed )
Supplement: Table_3.XLSX › C1904989
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
Function, pharmacological correction and maturation of new Indian CFTR gene mutations.
Sharma H et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2015
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
Heterogenous spectrum of CFTR gene mutations in Indian patients with congenital absence of vas deferens.
Sharma N et al.
Human Reproduction (oxford, England), 2009
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