Associated Papers
Two novel variants in CEP152 caused Seckel syndrome 5 in a Chinese family.
Zhang L et al.
Frontiers in Genetics, 2022
36685824 (PubMed )
Supplement: DataSheet1.doc
Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect.
D'Alessandro LC et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.
Syrbe S et al.
Nature Genetics, 2015
25751627 (PubMed )
Supplement: NIHMS62156-supplement-3.xls › patient_5
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