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Exploring Molecular and Phenotypic Characteristics of NAGLU Arg234Gly and Asp312Asn Variants

Hande Kaymakcalan Celebiler,Tanyeri Barak,Devendra K. Rai,Ilyas Kaya,Seda Erbilgin,Merve Cikili Uytun,Didem Oztop,Hakan Gumus,Huseyin Per,Serdar Ceylaner, Icten Bozkurt,Maria I. Kontaridis,Kaya Bilguvar, Nilay Akhun,Ayse Kilincaslan,Ahmet Okay Caglayan,E. Zeynep Erson-Omay,Murat Gunel,A. Gulhan Ercan-Sencicek

MOLECULAR SYNDROMOLOGY（2024）

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Key words
NAGLU,Mucopolysaccharidoses IIIB,Autism spectrum disorder,Lysosomal enzyme,Whole-exome sequencing
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