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.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.kuauthorAltunoğlu, Umut
dc.contributor.schoolcollegeinstituteSchool of Medicine
dc.date.accessioned2024-12-29T09:37:21Z
dc.date.issued2024
dc.description.indexedbyWoS
dc.description.issueSupplement 1
dc.description.publisherscopeInternational
dc.description.sponsorsPID2019-105620RB-I00/AEI/10.13039/501100011033; Spanish Ministry of Science and Innovation.
dc.description.volume32
dc.identifier.eissn1476-5438
dc.identifier.issn1018-4813
dc.identifier.quartileQ2
dc.identifier.urihttps://hdl.handle.net/20.500.14288/22337
dc.identifier.wos1147414902486
dc.keywordsBiochemistry and molecular biology
dc.keywordsGenetics and heredity
dc.languageen
dc.publisherSpringernature
dc.relation.grantnoSpanish Ministry of Science and Innovation [PID2019-105620RB-I00/AEI/10.13039/501100011033]
dc.sourceEuropean Journal of Human Genetics
dc.subjectMedicine
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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