| 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 |
| H00668 | Anemia due to disorders of glutathione metabolism |
| H02312 | Glutathione synthetase deficiency |
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| Reference |
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| Authors |
Shi ZZ, Habib GM, Rhead WJ, Gahl WA, He X, Sazer S, Lieberman MW |
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| Title |
Mutations in the glutathione synthetase gene cause 5-oxoprolinuria. |
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| Journal |
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| Reference |
|
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| Authors |
Xia H, Ye J, Wang L, Zhu J, He Z |
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| Title |
A case of severe glutathione synthetase deficiency with novel GSS mutations. |
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| Journal |
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| LinkDB |
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