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dc.contributor.authorCastle, Bruce
dc.date.accessioned2020-02-19T15:11:28Z
dc.date.available2020-02-19T15:11:28Z
dc.date.issued2019-11
dc.identifier.citationWilliamson KA [et al]. Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction. Genetics in Medicine. 2019 Nov 8en_US
dc.identifier.pmid31700164
dc.identifier.doi10.1038/s41436-019-0685-9
dc.identifier.urihttps://rde.dspace-express.com/handle/11287/621233
dc.description.abstractMost classical aniridia is caused by PAX6 haploinsufficiency. PAX6 missense variants can be hypomorphic or mimic haploinsufficiency. We hypothesized that missense variants also cause previously undescribed disease by altering the affinity and/or specificity of PAX6 genomic interactions.en_US
dc.language.isoenen_US
dc.publisherNatureen_US
dc.relation.urlhttp://dx.doi.org/10.1038/s41436-019-0685-9en_US
dc.subjectWessex Classification Subject Headings::Oncology. Pathology.::Geneticsen_US
dc.titleRecurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interactionen_US
dc.typeJournal Articleen_US
dc.identifier.journalGenetics in Medicineen_US
dc.type.versionPublisheden_US


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