Entry |
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Name |
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Gene |
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Organism |
hsa_var Human gene variants (Homo sapiens)
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Variation |
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Network |
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Disease |
H00063 | Spinocerebellar ataxia (SCA) |
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Reference |
|
Authors |
Zuhlke C, Dalski A, Hellenbroich Y, Bubel S, Schwinger E, Burk K |
Title |
Spinocerebellar ataxia type 1 (SCA1): phenotype-genotype correlation studies in intermediate alleles. |
Journal |
|
Reference |
|
Authors |
Banfi S, Servadio A, Chung MY, Kwiatkowski TJ Jr, McCall AE, Duvick LA, Shen Y, Roth EJ, Orr HT, Zoghbi HY |
Title |
Identification and characterization of the gene causing type 1 spinocerebellar ataxia. |
Journal |
|
Reference |
|
Authors |
Orr HT, Chung MY, Banfi S, Kwiatkowski TJ Jr, Servadio A, Beaudet AL, McCall AE, Duvick LA, Ranum LP, Zoghbi HY |
Title |
Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. |
Journal |
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LinkDB |
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