WebOct 30, 2024 · C2orf69 : 619219 : 2q33.3 : Combined oxidative phosphorylation deficiency 44 : AR: 3 : 618855 : FASTKD2 : 612322 : 2q36.1 : Combined oxidative phosphorylation deficiency 16 : AR: 3 : ... To ensure long-term funding for the OMIM project, we have diversified our revenue stream. We are determined to keep this website … WebC2orf69; Gene information. Gene name-Description -Location-Cytogenetic region-Biotype-Gene in NCBI. Gene in Ensembl. Phenotype information; Pathway information; Regulation; Expression; Gene in Open Targets. Gene in OMIM. Mouse ortholog in IMPC. Available data: Associations Studies Traits Download Catalog data.
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WebNM_153689.6(C2orf69):c.280del (p.Glu94fs) Cite this record. Cite this record Close. Copy. Help Interpretation: Pathogenic Review status: no assertion criteria provided Submissions: 1 First in ClinVar: Jul 15, 2024 ... WebNM_153689.6(C2orf69):c.280del (p.Glu94fs) Cite this record. Cite this record Close. Copy. Help Interpretation: Pathogenic Review status: no assertion criteria provided … looking for love youtube
C2orf69 chromosome 2 open reading frame 69 [ (human)]
WebMar 8, 2024 · C2orf69and multisystem disorder 4 Introduction Inborn errors of metabolism (IEM) are a genetically heterogeneous group of more than 1000 diseases (1). They result from metabolic defects due to deficiency of enzymes, membrane transporters, or other functional proteins. WebJul 1, 2024 · Collectively, our results delineate an autoinflammatory Mendelian disorder of C2orf69 deficiency that disrupts the development/homeostasis of the immune and … WebApr 6, 2024 · Abstract. Human C2orf69 is an evolutionary-conserved gene whose function is unknown. Here, we report 9 children from 5 unrelated families with a fatal syndrome … looking for love wallpaper