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In this project, we identify AKAP2 as a novel ciliary protein that controls physiological events underlying cilium biogenesis, ciliary trafficking and signaling. To this end, we performed affinity purification of AKAP2 tagged with FLAG-STREP. A cell line with FLAG-STREP empty vector was used as nega...
ORGANISM(S): Homo sapiens (Human) 
2026-10-26 | PXD063616 | Pride
Comparative genomic hybridization of a test DNA from a patient with intellectual disability and a reference DNA
ORGANISM(S): Homo sapiens 

We report a study of large rare, copy number variants (CNVs) in 192 patients with renal hypodysplasia (RHD). Congenital malformations of the kidney and urinary tract are present in 3 to 7 per 1,000 births, accounting for 16% of birth defects. These malformations account for 40-50% of pediatric an...

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