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Orphanet Journal of Rare Diseases, ISSN 1750-1172, 06/2017, Volume 12, Issue 1, pp. 121 - 8
Journal Article
Current Opinion in Neurology, ISSN 1350-7540, 08/2015, Volume 28, Issue 4, pp. 413 - 422
Journal Article
Clinical Genetics, ISSN 0009-9163, 08/2019, Volume 96, Issue 2, pp. 169 - 175
Heterozygous missense variants in the SPTBN2 gene, encoding the non‐erythrocytic beta spectrin 2 subunit (beta‐III spectrin), have been identified in autosomal... 
SCA5 | congenital ataxia | SCAR14 | spinocerebellar ataxia | beta‐III spectrin | SPTBN2 | beta-III spectrin | DOMAIN | GENETICS & HEREDITY | ITPR1 | MUTATIONS | FAMILY | DELETION | Nervous system diseases | Genetic disorders | Cerebellar ataxia | Membrane proteins | Spectrin | Cerebellum | Phenotypes | Neurodegenerative diseases | Spinocerebellar ataxia | Ataxia | Genetic testing
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 1/2012, Volume 109, Issue 5, pp. 1661 - 1666
Journal Article
Movement Disorders, ISSN 0885-3185, 05/2017, Volume 32, Issue 5, pp. 720 - 720
Journal Article
Annals of Neurology, ISSN 0364-5134, 12/2015, Volume 78, Issue 6, pp. 871 - 886
Journal Article
PLoS Genetics, ISSN 1553-7390, 10/2011, Volume 7, Issue 10, p. e1002325
Journal Article