Associated Papers
Identified five variants in CFTR gene that alter RNA splicing by minigene assay.
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Frontiers in Genetics, 2025
Hunting for Familial Parkinson's Disease Mutations in the Post Genome Era.
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Genes, 2021
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
Interference with ubiquitination in CFTR modifies stability of core glycosylated and cell surface pools.
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Molecular and Cellular Biology, 2014
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