Associated Papers
Phenotypic continuum between Waardenburg syndrome and idiopathic hypogonadotropic hypogonadism in humans with SOX10 variants.
Rojas RA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
33442024 (PubMed )
Supplement: NIHMS1658429-supplement-Supplementary_Table_1.xlsx › Supp_Table_1C_SOX10-gnomAD
Treatment-associated TP53 DNA-binding domain missense mutations in the pathogenesis of secondary gliosarcoma.
Pain M et al.
Oncotarget, 2018
The usefulness of whole-exome sequencing in routine clinical practice.
Iglesias A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2014
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