Identifying candidate genes underlying isolated congenital anosmia
Kamarck M, Trimmer C, Murphy N, Gregory K, Manoel D, Logan D, Saraiva L, Mainland J. Identifying candidate genes underlying isolated congenital anosmia. Clinical Genetics 2023, 105: 376-385. PMID: 38148624, PMCID: PMC10932857, DOI: 10.1111/cge.14470.Peer-Reviewed Original ResearchMeSH KeywordsCyclic Nucleotide-Gated Cation ChannelsHumansMutationOlfaction DisordersQuality of LifeSignal TransductionSmellConceptsIsolated congenital anosmiaWhole-exome sequencingCongenital anosmiaGene candidate listsLoss-of-function variantsSpectrum of genetic alterationsOlfactory transduction pathwayZinc ion bindingDeleterious variantsExome sequencingTransduction pathwaysGenetic alterationsOlfactory signalsNon-syndromicOlfactory functionAssociated with olfactionQuality of lifeGenesAnosmiaIon bindingEstimated 1VariantsOlfactionFamilyCNGA2