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De novo mutations in FBRSL1 cause a novel recognizable malf..:
Ufartes, Roser
;
Berger, Hanna
;
Till, Katharina
...
https://repository.publisso.de/resource/frl:6469436. , 2020
Link:
https://repository.publisso.de/resource/frl:6469436
RT Journal T1
De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome
UL https://suche.suub.uni-bremen.de/peid=base-ftzbmed:oai:frl.publisso.de:frl:6469436&Exemplar=1&LAN=DE A1 Ufartes, Roser A1 Berger, Hanna A1 Till, Katharina A1 Salinas, Gabriela A1 Sturm, Marc A1 Altmüller, Janine A1 Nürnberg, Peter A1 Thiele, Holger A1 Funke, Rudolf A1 Apeshiotis, Neophytos A1 Langen, Hendrik A1 Wollnik, Bernd A1 Borchers, Annette A1 Silke YR 2020 K1 Mutation/genetics [MeSH] K1 Adolescent [MeSH] K1 Lymphokines/genetics [MeSH] K1 Exons/genetics [MeSH] K1 Transcription Factors/genetics [MeSH] K1 Abnormalities K1 Multiple/genetics [MeSH] K1 Humans [MeSH] K1 Syndrome [MeSH] K1 Intellectual Disability/genetics [MeSH] K1 Molecular Medicine K1 Animals [MeSH] K1 Protein Isoforms/genetics [MeSH] K1 Original Investigation K1 Male [MeSH] K1 Metabolic Diseases K1 Gene Function K1 Phenotype [MeSH] K1 Child [MeSH] K1 Human Genetics JF https://repository.publisso.de/resource/frl:6469436 LK http://dx.doi.org/https://repository.publisso.de/resource/frl:6469436 DO https://repository.publisso.de/resource/frl:6469436 SF ELIB - SuUB Bremen
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