Associated Papers
Two novel variants in CEP152 caused Seckel syndrome 5 in a Chinese family.
Zhang L et al.
Frontiers in Genetics, 2022
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S4b_-_Disease_Var
Global Carrier Rates of Rare Inherited Disorders Using Population Exome Sequences.
Fujikura K
Plos One, 2016
CEP152 is a genome maintenance protein disrupted in Seckel syndrome.
Kalay E et al.
Nature Genetics, 2011
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