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1 Ergebnisse
1
Genotype-Phenotype correlations of SCARB2 associated clinic..:
Atasu, Burcu
;
Acarlı, Ayse Nur Ozdag
;
Gurvit, Hakan
...
info:eu-repo/semantics/altIdentifier/pmid/pmid:35346091. , 2022
Link:
https://pub.dzne.de/record/163696
RT Journal T1
Genotype-Phenotype correlations of SCARB2 associated clinical presentation: a case report and in-depth literature review
UL https://suche.suub.uni-bremen.de/peid=base-ftdznevdb:oai:pub.dzne.de:163696&Exemplar=1&LAN=DE A1 Atasu, Burcu A1 Acarlı, Ayse Nur Ozdag A1 Gurvit, Hakan A1 Emre, Murat A1 Gasser, Thomas A1 Lohmann, Ebba A1 Bilgic, Basar A1 Baykan, Betül A1 Demir, Erol A1 Ozluk, Yasemin A1 Turkmen, Aydin A1 Hauser, Ann-Kathrin A1 Guven, Gamze A1 Hanagasi, Hasmet PB Springer YR 2022 K1 info:eu-repo/classification/ddc/610 K1 Genetic Association Studies K1 Humans K1 Lysosome-Associated Membrane Glycoproteins: genetics K1 Myoclonic Epilepsies K1 Progressive: genetics K1 Progressive: pathology K1 Phenotype K1 Receptors K1 Scavenger: genetics K1 Action Myoclonus-Renal Failure Syndrome K1 Ataxia K1 Gaucher disease K1 Parkinson's disease K1 Pathogenic variants K1 Progressive Myoclonic Epilepsy K1 SCARB2 K1 Lysosome-Associated Membrane Glycoproteins K1 Scavenger JF info:eu-repo/semantics/altIdentifier/pmid/pmid:35346091 LK http://dx.doi.org/https://pub.dzne.de/record/163696 DO https://pub.dzne.de/record/163696 SF ELIB - SuUB Bremen
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