 | | NETWORK: N00294 | |
| Entry |
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| Name |
Mutation-activated GCM2 to transcription
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| Definition |
GCM2* => PTH |
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| Expanded |
9247v2 => 5741 |
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| Class |
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| Type |
Variant
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| Disease |
| H00246 | Primary hyperparathyroidism |
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| Gene |
| 9247 | GCM2; glial cells missing homolog 2 |
| 5741 | PTH; parathyroid hormone |
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| Variant |
9247v2 (GCM2*) GCM2 activating mutation
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| Reference |
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| Authors |
Guan B, Welch JM, Sapp JC, Ling H, Li Y, Johnston JJ, Kebebew E, Biesecker LG, Simonds WF, Marx SJ, Agarwal SK |
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| Title |
GCM2-Activating Mutations in Familial Isolated Hyperparathyroidism. |
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| Journal |
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| Reference |
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| Authors |
El Lakis M, Nockel P, Guan B, Agarwal S, Welch J, Simonds WF, Marx S, Li Y, Nilubol N, Patel D, Yang L, Merkel R, Kebebew E |
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| Title |
Familial isolated primary hyperparathyroidism associated with germline GCM2 mutations is more aggressive and has a lesser rate of biochemical cure. |
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| Journal |
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| LinkDB |
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