Associated Papers
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
40791678 (PubMed )
Supplement: media-2.xlsx › Table_S12_ClinVar_PLP_variants
Genetic Primary Microcephalies: When Centrosome Dysfunction Dictates Brain and Body Size.
Farcy S et al.
Cells, 2023
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
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
Comprehensive review on the molecular genetics of autosomal recessive primary microcephaly (MCPH).
Naveed M et al.
Genetics Research, 2018
Asterless is required for centriole length control and sperm development.
Galletta BJ et al.
The Journal of Cell Biology, 2016
Autosomal Recessive Primary Microcephaly (MCPH): clinical manifestations, genetic heterogeneity and mutation continuum.
Mahmood S et al.
Orphanet Journal of Rare Diseases, 2011
Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4.
Guernsey DL et al.
American Journal of Human Genetics, 2010
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