about
Phenotypic variation in FAM83H-associated amelogenesis imperfectaLoss of carbonic anhydrase XII function in individuals with elevated sweat chloride concentration and pulmonary airway diseaseNovel FAM83H mutations in Turkish families with autosomal dominant hypocalcified amelogenesis imperfecta.Creation and characterization of an airway epithelial cell line for stable expression of CFTR variants.Transformative therapies for rare CFTR missense alleles.Exclusion of candidate genes in seven Turkish families with autosomal recessive amelogenesis imperfecta.Identification of 2 novel ANTXR2 mutations in patients with hyaline fibromatosis syndrome and proposal of a modified grading systemCapitalizing on the heterogeneous effects of CFTR nonsense and frameshift variants to inform therapeutic strategy for cystic fibrosisFunctional Assays Are Essential for Interpretation of Missense Variants Associated with Variable Expressivity
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description
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Sangwoo T Han
@ast
Sangwoo T Han
@en
Sangwoo T Han
@es
Sangwoo T Han
@nl
type
label
Sangwoo T Han
@ast
Sangwoo T Han
@en
Sangwoo T Han
@es
Sangwoo T Han
@nl
prefLabel
Sangwoo T Han
@ast
Sangwoo T Han
@en
Sangwoo T Han
@es
Sangwoo T Han
@nl
P106
P1153
56999423100
P31
P496
0000-0002-5876-704X