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Homozygous NRP1 truncating variant in a multiplex family with conotruncal heart defects, lymphatic malformations and genitourinary anomalies

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dc.contributor.coauthorKalayci, Tugba
dc.contributor.coauthorUyguner, Zehra Oya
dc.contributor.departmentSchool of Medicine
dc.contributor.departmentGraduate School of Health Sciences
dc.contributor.kuauthorAltunoğlu, Umut
dc.contributor.kuauthorKaya, Mert
dc.contributor.schoolcollegeinstituteGRADUATE SCHOOL OF HEALTH SCIENCES
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/20.500.14288/22324
dc.identifier.wos1050507001626
dc.keywordsBiochemistry and molecular biology
dc.keywordsGenetics and heredity
dc.language.isoeng
dc.publisherSpringernature
dc.relation.ispartofEuropean Journal of Human Genetics
dc.subjectMedicine
dc.titleHomozygous NRP1 truncating variant in a multiplex family with conotruncal heart defects, lymphatic malformations and genitourinary anomalies
dc.typeMeeting Abstract
dspace.entity.typePublication
local.contributor.kuauthorAltunoğlu, Umut
local.contributor.kuauthorKaya, Mert
local.publication.orgunit1SCHOOL OF MEDICINE
local.publication.orgunit1GRADUATE SCHOOL OF HEALTH SCIENCES
local.publication.orgunit2School of Medicine
local.publication.orgunit2Graduate School of Health Sciences
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