Associated Papers
Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS.
Yin X et al.
American Journal of Human Genetics, 2024
39357517 (PubMed )
Supplement: mmc2.xlsx › d_Exp-data
Dupilumab improves clinical symptoms in children with Netherton syndrome by suppressing Th2-mediated inflammation.
Yan S et al.
Frontiers in Immunology, 2022
Analysis of rare APC variants at the mRNA level: six pathogenic mutations and literature review.
Kaufmann A et al.
The Journal of Molecular Diagnostics : Jmd, 2009
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