Associated Papers
Waardenburg syndrome type 2 with a de novo variant of the SOX10 gene: a case report.
Li Y et al.
Bmc Medical Genomics, 2024
38659011 (PubMed )
Supplement: 12920_2024_1877_MOESM2_ESM.xlsx › H12056928648
Identification of Two Novel Mutations in COG5 Causing Congenital Disorder of Glycosylation.
Wang X et al.
Frontiers in Genetics, 2020
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