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A Novel Nonsense Variant in GRM1 Causes Autosomal Recessive Spinocerebellar Ataxia 13 in a Consanguineous Pakistani Family

Background and objectives: Autosomal recessive spinocerebellar ataxia-13 (SCAR13) is an ultra-rare disorder characterized by slowly progressive cerebellar ataxia, cognitive deficiencies, and skeletal and oculomotor abnormalities. The objective of this case report is to expand the clinical and molecu...

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Detalles Bibliográficos
Autores principales:	Yousaf, Hammad, Fatima, Ambrin, Ali, Zafar, Baig, Shahid M., Toft, Mathias, Iqbal, Zafar
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2022
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9498400/ https://www.ncbi.nlm.nih.gov/pubmed/36140834 http://dx.doi.org/10.3390/genes13091667

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