| Entry |
|
| Name |
|
| Gene |
|
| Organism |
hsa_var Human gene variants (Homo sapiens)
|
| Variation |
|
| Network |
|
| Disease |
| H00063 | Spinocerebellar ataxia (SCA) |
|
| 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 |
|
| LinkDB |
|