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Loss of FOCAD, operating in the SKI mRNA surveillance pathway, is responsible for a syndromic form of pediatric liver cirrhosis

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dc.contributor.coauthorTraspas, Ricardo Moreno
dc.contributor.coauthorTeoh, Tze Shin
dc.contributor.coauthorWong, Pui Mun
dc.contributor.coauthorMaier, Michael
dc.contributor.coauthorLay, Kenneth
dc.contributor.coauthorAli, Nur Ain
dc.contributor.coauthorLarson, Austin
dc.contributor.coauthorAl Mutairi, Fuad
dc.contributor.coauthorAl-Sanna'a, Nouriya
dc.contributor.coauthorFaqeih, Eissa Ali
dc.contributor.coauthorCheema, Huma
dc.contributor.coauthorDupont, Juliette
dc.contributor.coauthorSandoval, Renata
dc.contributor.coauthorRamos, Luiza
dc.contributor.coauthorBauer, Peter
dc.contributor.coauthorCogne, Benjamin
dc.contributor.coauthorBertoli-Avella, Aida
dc.contributor.coauthorVincent, Marie
dc.contributor.coauthorGirisha, Katta
dc.contributor.departmentSchool of Medicine
dc.contributor.kuauthorReversade, Bruno
dc.contributor.schoolcollegeinstituteSCHOOL OF MEDICINE
dc.date.accessioned2024-12-29T09:37:19Z
dc.date.issued2023
dc.description.indexedbyWOS
dc.description.issueSupplement 1
dc.description.publisherscopeInternational
dc.description.sponsoredbyTubitakEuN/A
dc.description.volume31
dc.identifier.eissn1476-5438
dc.identifier.issn1018-4813
dc.identifier.quartileQ2
dc.identifier.urihttps://hdl.handle.net/20.500.14288/22326
dc.identifier.wos1050507000069
dc.keywordsBiochemistry and molecular biology
dc.keywordsGenetics and heredity
dc.language.isoeng
dc.publisherSpringernature
dc.relation.ispartofEuropean Journal of Human Genetics
dc.subjectMedicine
dc.titleLoss of FOCAD, operating in the SKI mRNA surveillance pathway, is responsible for a syndromic form of pediatric liver cirrhosis
dc.typeMeeting Abstract
dspace.entity.typePublication
local.contributor.kuauthorReversade, Bruno
local.publication.orgunit1SCHOOL OF MEDICINE
local.publication.orgunit2School of Medicine
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