Associated Papers
CEP41, a ciliopathy-linked centrosomal protein, regulates microtubule assembly and cell proliferation.
Prassanawar SS et al.
Journal of Cell Science, 2024
Family-based exome sequencing and case-control analysis implicate CEP41 as an ASD gene.
Patowary A et al.
Translational Psychiatry, 2019
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
30937429 (PubMed )
Supplement: famiglietti_supplementarytables1_rev_baz040.xlsx › common
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
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 985.382
Mutations in the TSGA14 gene in families with autism spectrum disorders.
Korvatska O et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2011
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