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Chuang-Chang Dai

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#protein folding Oct 2026

KCTD1 p.Gly62Asp Variant in Scalp-Ear-Nipple Syndrome: Phenotypic and Structural Insights.

Pathogenic variants in the potassium channel tetramerization domain-containing 1 (KCTD1) gene cause scalp-ear-nipple syndrome (SENS), a rare autosomal dominant developmental disorder. Although the recurrent p.Gly62Asp variant has been previously reported, its genotype-phenotype correlation and structural pathogenic mec...

Yu Zhang, Qi-Feng Wu, Bao-Fu Yu et al. · 0 citations

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