Associated Papers
Identification and Characterization of a Rare Exon 22 Duplication in CFTR in Two Families.
Ahting S et al.
International Journal of Molecular Sciences, 2025
40429633 (PubMed )
Supplement: ijms-26-04487-s001.zip › CFTR2_25September2024.xlsx › CFTR2_variants_by_legacy_name
Case Report: Cystic fibrosis transmembrane conductance regulator gene heterozygous variation presenting with abdominal pain and hepatopancreatic lesions in a child.
Lu X et al.
Frontiers in Pediatrics, 2025
Exploring the role of non-canonical splice site variants in aberrant splicing associated with reproductive genetic disorders.
Zhou L et al.
Clinical Genetics, 2024
Structural Biology Helps Interpret Variants of Uncertain Significance in Genes Causing Endocrine and Metabolic Disorders.
Ittisoponpisan S et al.
Journal of the Endocrine Society, 2018
30019023 (PubMed )
Supplement: js.2018-00077.sd2.xls › Sheet1
Structural mechanisms of CFTR function and dysfunction.
Hwang TC et al.
The Journal of General Physiology, 2018
29581173 (PubMed )
Supplement: JGP_201711946_TableS1.pdf
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