Autosomal Recessive Cerebellar Atrophy and Spastic Ataxia in Patients With Pathogenic Biallelic Variants in GEMIN5
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DOI: 10.3389/fcell.2022.783762
Abstract: The hereditary ataxias are a heterogenous group of disorders with an increasing number of causative genes being described. Due to the clinical and genetic heterogeneity seen in these conditions, the majority of such individuals endure… read more here.
Keywords: cerebellar atrophy; variants gemin5; gemin5; biallelic variants ... See more keywords