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Case Report: Reinterpretation and Reclassification of ARSB:..:
Nahid Al Dhahouri
;
Amanat Ali
;
Jozef Hertecant
.
https://www.frontiersin.org/articles/10.3389/fped.2021.803732/full. , 2022
Link:
https://doi.org/10.3389/fped.2021.803732
RT Journal T1
Case Report: Reinterpretation and Reclassification of ARSB:p.Arg159Cys Variant Identified in an Emirati Patient With Hearing Loss Caused by a Pathogenic Variant in the CDH23 Gene
UL https://suche.suub.uni-bremen.de/peid=base-ftdoajarticles:oai:doaj.org_article:972ff77d766241db8d366e75205d5705&Exemplar=1&LAN=DE A1 Nahid Al Dhahouri A1 Amanat Ali A1 Jozef Hertecant A1 Fatma Al-Jasmi PB Frontiers Media S.A. YR 2022 K1 arylsulfatase B K1 glycosaminoglycans K1 non-syndromic hearing loss K1 Cdh23 K1 whole exome sequencing K1 Pediatrics K1 RJ1-570 JF https://www.frontiersin.org/articles/10.3389/fped.2021.803732/full LK http://dx.doi.org/https://doi.org/10.3389/fped.2021.803732 DO https://doi.org/10.3389/fped.2021.803732 SF ELIB - SuUB Bremen
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