Publication:
Recessive mutations in SCNM1 are a new cause of orofaciodigital syndrome due to errors in minor intron splicing affecting primary cilia

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dc.conference.dateJune 10-13, 2023
dc.conference.locationGlasgow, Scotland
dc.conference.organizer56th Annual Conference of the European-Society-of-Human-Genetics (ESHG)
dc.contributor.coauthorIturrate, Asier
dc.contributor.coauthorRivera-Barahona, Ana
dc.contributor.coauthorFlores, Carmen-Lisset
dc.contributor.coauthorAotaify, Ghada
dc.contributor.coauthorElhossini, Rasha
dc.contributor.coauthorPerez-Sanz, Marina L.
dc.contributor.coauthorNevado, Julian
dc.contributor.coauthorTenorio, Jair
dc.contributor.coauthorCarlos Trivino, Juan
dc.contributor.coauthorGarcia-Gonzalo, Francesc R.
dc.contributor.coauthorPiceci-Sparascio, Francesca
dc.contributor.coauthorDe Luca, Alessandro
dc.contributor.coauthorMartinez, Leopoldo
dc.contributor.coauthorKalayci, Tugba
dc.contributor.coauthorLapunzina, Pablo
dc.contributor.coauthorAglan, Mona
dc.contributor.coauthorAbdalla, Ebtesam
dc.contributor.coauthorRuiz-Perez, Victor
dc.contributor.departmentSchool of Medicine
dc.contributor.facultymemberYes
dc.contributor.kuauthorAltunoğlu, Umut
dc.contributor.schoolcollegeinstituteSCHOOL OF MEDICINE
dc.date.accessioned2024-12-29T09:37:21Z
dc.date.issued2024
dc.description.fulltextNo
dc.description.harvestedfromManual
dc.description.indexedbyWOS
dc.description.openaccessN/A
dc.description.peerreviewstatusN/A
dc.description.publisherscopeInternational
dc.description.readpublishN/A
dc.description.sponsoredbyTubitakEuN/A
dc.description.sponsorshipSpanish Ministry of Science and Innovation.
dc.description.studentonlypublicationNo
dc.description.studentpublicationNo
dc.description.versionPublished Version
dc.identifier.WoSQuartileQ1
dc.identifier.eissn1476-5438
dc.identifier.endpage532
dc.identifier.grantnoPID2019-105620RB-I00/AEI/10.13039/501100011033
dc.identifier.issn1018-4813
dc.identifier.startpage532
dc.identifier.urihttps://hdl.handle.net/20.500.14288/22337
dc.identifier.volume32
dc.identifier.wos001147414902486
dc.keywordsBiochemistry and molecular biology
dc.keywordsGenetics and heredity
dc.keywordsSCNM1
dc.keywordsOrofaciodigital syndrome
dc.keywordsMinor intron splicing
dc.language.isoeng
dc.publisherSpringernature
dc.relation.affiliationKoç University
dc.relation.collectionKoç University Institutional Repository
dc.relation.ispartofEuropean Journal of Human Genetics
dc.relation.openaccessKoç University Institutional Repository
dc.rightsN/A
dc.rights.uriN/A
dc.subjectMedicine
dc.subjectBiochemistry and molecular biology
dc.titleRecessive mutations in SCNM1 are a new cause of orofaciodigital syndrome due to errors in minor intron splicing affecting primary cilia
dc.typeMeeting Abstract
dspace.entity.typePublication
local.contributor.kuauthorAltunoğlu, Umut
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relation.isOrgUnitOfPublication.latestForDiscoveryd02929e1-2a70-44f0-ae17-7819f587bedd
relation.isParentOrgUnitOfPublication17f2dc8e-6e54-4fa8-b5e0-d6415123a93e
relation.isParentOrgUnitOfPublication.latestForDiscovery17f2dc8e-6e54-4fa8-b5e0-d6415123a93e

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