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eNauka >  Results >  De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome
Title: De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome
Authors: Langlois, Sylvie; Tarailo Graovac, Maja ; Sayson, Bryan; Drögemöller, Britt; Swenerton, Anne; Ross, Colin JD; Wasserman, Wyeth W; van, Karnebeek Clara DM
Issue Date: 2015
Publication: European Journal of Human Genetics
ISSN: 1018-4813 European Journal of Human Genetics Search Idenfier
Type: Article
Collation: vol. 24 br. 6 str. 949-953
DOI: 10.1038/ejhg.2015.217
WoS-ID: 000375706800025
Scopus-ID: 2-s2.0-84944909030
PMID: 26486474
PMCID: PMC4867456
URI: https://enauka.gov.rs/handle/123456789/518658
Metadata source: Migrirano iz RIS podataka
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