 | | VARIANT: 54840v1 | |
| Entry |
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| Name |
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| Type |
Loss of function
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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 |
| H00848 | Ataxia with ocular apraxia |
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| Reference |
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| Authors |
Shimazaki H, Takiyama Y, Sakoe K, Ikeguchi K, Niijima K, Kaneko J, Namekawa M, Ogawa T, Date H, Tsuji S, Nakano I, Nishizawa M |
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| Title |
Early-onset ataxia with ocular motor apraxia and hypoalbuminemia: the aprataxin gene mutations. |
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| Journal |
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| Reference |
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| Authors |
Tumbale P, Schellenberg MJ, Mueller GA, Fairweather E, Watson M, Little JN, Krahn J, Waddell I, London RE, Williams RS |
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| Title |
Mechanism of APTX nicked DNA sensing and pleiotropic inactivation in neurodegenerative disease. |
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| Journal |
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| LinkDB |
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