WebTest Description. aa. Method. Whole exome massively parallel sequencing with bioinformatically targeted analysis of the panel of interest. Copy number variants (CNVs) are reviewed for requested genes; however, this may be restricted to only those involving multiple exons due to variable sensitivity for detection of smaller CNVs. Test Type. Panel. WebThe .gov means it's official. Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you're on a federal government site.
Genes & Development -- Future Table of Contents (Nov 1, 2024, …
Webkiaa0753 cplane1 tctn1 cep120 nphp1 nph tmem67 mks1 hyls1 kif7 arl3 cc2d2a rpgrip1l cep290 ift74 js txndc15 nphp3 invs iqcb1 nek8 glis2 wdr19 ttc21b sdccag8 cep164 znf423 anks6 dcdc2 mapkbp1 adamts9 ... cep120 jbts31 ccdc100 617761 613446 5q23.2 126 cep290 jbts5 nphp6,mks4,bbs14 610188 610142 12q21.32 118 http://genesdev.cshlp.org/content/suppl/2024/10/26/gad.348636.121.DC1/Supplemental_Material.pdf griffing leazer attorneys
Novel KIAA0753 mutations extend the phenotype of …
WebOct 26, 2024 · CEP120 mutants, which hinder KIAA0753 recruitment, does not. Together, our data reveal a close interplay be-tween CEP120 and KIAA0753 for the germinal zone … WebMolecular Genetics By whole-exome sequencing in a brother and sister with Joubert syndrome, Stephen et al. (2024) identified biallelic mutations in the KIAA0753 gene that were confirmed by dideoxy sequencing: a missense mutation (R257G; 617112.0003) inherited from the mother, and a splicing mutation ( 617112.0004) inherited from the father. WebShowing 25 of 1,239 results for CEP120 Search Time: 0 ms in Aliases & Descriptions Drugs & Compounds Disorders Text-Mined Disorders Domains Expression in Human Tissues Function Genomics Localization Orthologs Paralogs Pathways Phenotypes Proteins Publications Summaries Transcripts Variants NEW griffin glasshouses limited