Associated Papers
A Novel HERC2 Variant in Two Siblings with Autosomal Recessive Intellectual Developmental Disorder-38 and Cardiomyopathy.
Şenol HB et al.
Molecular Syndromology, 2025
Delineating the expanding phenotype of HERC2-related disorders: The impact of biallelic loss of function versus missense variation.
Vincent KM et al.
Clinical Genetics, 2021
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