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CLN8 Gene Compound Heterozygous Variants: A New Case and Protein Bioinformatics Analyses

The CLN8 disease type refers to one of the neuronal ceroid lipofuscinoses (NCLs) which are the most common group of neurodegenerative diseases in childhood. The clinical phenotypes of this disease are progressive neurological deterioration that could lead to seizures, dementia, ataxia, visual failur...

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Detalles Bibliográficos
Autores principales:	Sharkia, Rajech, Zalan, Abdelnaser, Zahalka, Hazar, Kessel, Amit, Asaly, Ayman, Al-Shareef, Wasif, Mahajnah, Muhammad
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2022
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9407845/ https://www.ncbi.nlm.nih.gov/pubmed/36011304 http://dx.doi.org/10.3390/genes13081393

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