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Uniparental disomy for chromosome 1 with POMGNT1 splice-site variant causes muscle-eye-brain disease

POMGNT1, encoding protein O-mannose beta-1,2-N-acetylglucosaminyltransferase 1, is one of the genes responsible for dystroglycanopathy (DGP), which includes multiple phenotypes such as muscle-eye-brain disease (MEB), congenital muscular dystrophy with intellectual disability, and limb-girdle muscula...

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Detalles Bibliográficos
Autores principales:	Liu, Yi-Dan, Tan, Dan-Dan, Song, Dan-Yu, Fan, Yan-Bin, Fu, Xiao-Na, Ge, Lin, Wei, Wei, Xiong, Hui
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2023
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10277930/ https://www.ncbi.nlm.nih.gov/pubmed/37342771 http://dx.doi.org/10.3389/fgene.2023.1170089

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