Associated Papers
Novel Variants of CEP152 in a Case of Compound-Heterozygous Inheritance of Epilepsy.
Li W et al.
Global Medical Genetics, 2024
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
CAGI SickKids challenges: Assessment of phenotype and variant predictions derived from clinical and genomic data of children with undiagnosed diseases.
Kasak L et al.
Human Mutation, 2019
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