 | | VARIANT: 18v1 | |
| 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 |
nt06544 Neuroactive ligand signaling |
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| Disease |
| H01257 | GABA-transaminase deficiency |
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| Reference |
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| Authors |
Medina-Kauwe LK, Tobin AJ, De Meirleir L, Jaeken J, Jakobs C, Nyhan WL, Gibson KM |
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| Title |
4-Aminobutyrate aminotransferase (GABA-transaminase) deficiency. |
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| Journal |
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| Reference |
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| Authors |
Besse A, Wu P, Bruni F, Donti T, Graham BH, Craigen WJ, McFarland R, Moretti P, Lalani S, Scott KL, Taylor RW, Bonnen PE |
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| Title |
The GABA transaminase, ABAT, is essential for mitochondrial nucleoside metabolism. |
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| Journal |
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| LinkDB |
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