Associated Papers
Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features.
Ansari M et al.
Hgg Advances, 2024
38297832 (PubMed )
Supplement: mmc5.xlsx › Table_S4b_MERGE_cohort
Heterozygous loss-of-function SMC3 variants are associated with variable and incompletely penetrant growth and developmental features.
Ansari M et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
37808847 (PubMed )
Supplement: media-5.xlsx › Table_S4b_MERGE_cohort
Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy.
Koh HY et al.
Jama Network Open, 2023
37471090 (PubMed )
Supplement: jamanetwopen-e2324380-s001.pdf
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