MTOR gene
The MTOR gene encodes a phosphatidylinositol kinase-related kinases. This kinase is involved in cell signaling of apoptotic and immune regulation processes. Inhibitors are potent immunosuppressives. MINDS syndrome is caused by autosomal doinant mutations. Somatic mutations are responsible for isolated focal cortical dysplasia type 2 which manifests by intractable epilepsia. The ANGPTL7 gene is located in an intron of this gene.
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References:
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68. |
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70. |
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71. |
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75. |
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76. |
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77. |
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79. |
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81. |
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82. |
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83. |
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84. |
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85. |
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86. |
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87. |
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88. |
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89. |
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90. |
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91. |
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92. |
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93. |
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95. |
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Update: Aug. 14, 2020