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A Novel GEMIN4 Variant in a Consanguineous Family Leads to ..:
Hesham Aldhalaan
;
Albandary AlBakheet
;
Sarah AlRuways
...
Molecular Genetics and Genomics. , 2021
Link:
https://doi.org/10.3390/genes13010092
RT Journal T1
A Novel GEMIN4 Variant in a Consanguineous Family Leads to Neurodevelopmental Impairment with Severe Microcephaly, Spastic Quadriplegia, Epilepsy, and Cataracts
UL https://suche.suub.uni-bremen.de/peid=base-ftmdpi:oai:mdpi.com:_2073-4425_13_1_92_&Exemplar=1&LAN=DE A1 Hesham Aldhalaan A1 Albandary AlBakheet A1 Sarah AlRuways A1 Nouf AlMutairi A1 Maha AlNakiyah A1 Reema AlGhofaili A1 Kelly J. Cardona-Londoño A1 Khalid Omar Alahmadi A1 Hanan AlQudairy A1 Maha M. AlRasheed A1 Dilek Colak A1 Stefan T. Arold A1 Namik Kaya PB Multidisciplinary Digital Publishing Institute YR 2021 K1 GEMIN4 K1 homoallelic K1 novel pathogenic variant K1 in silico prediction K1 structural modeling K1 global developmental delay K1 pediatric cataract JF Molecular Genetics and Genomics LK http://dx.doi.org/https://doi.org/10.3390/genes13010092 DO https://doi.org/10.3390/genes13010092 SF ELIB - SuUB Bremen
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