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1 Ergebnisse
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Whole Exome Sequencing Reveals a Novel Homozygous Variant i..:
Angham Abdulrhman Abdulkareem
;
Bader H. Shirah
;
Muhammad Imran Naseer
https://www.mdpi.com/2073-4425/14/2/354. , 2023
Link:
https://doi.org/10.3390/genes14020354
RT Journal T1
Whole Exome Sequencing Reveals a Novel Homozygous Variant in the Ganglioside Biosynthetic Enzyme, ST3GAL5 Gene in a Saudi Family Causing Salt and Pepper Syndrome
UL https://suche.suub.uni-bremen.de/peid=base-ftdoajarticles:oai:doaj.org_article:ac4e6012fc344fbebb36ae01cea1fef5&Exemplar=1&LAN=DE A1 Angham Abdulrhman Abdulkareem A1 Bader H. Shirah A1 Muhammad Imran Naseer PB MDPI AG YR 2023 K1 salt and pepper developmental regression syndrome K1 epilepsy K1 developmental delay K1 GM3 synthase K1 short stature K1 saudi arabia K1 Genetics K1 QH426-470 JF https://www.mdpi.com/2073-4425/14/2/354 LK http://dx.doi.org/https://doi.org/10.3390/genes14020354 DO https://doi.org/10.3390/genes14020354 SF ELIB - SuUB Bremen
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