| 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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| Variation |
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| Network |
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| Disease |
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| Reference |
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| Authors |
Arnold A, Horst SA, Gardella TJ, Baba H, Levine MA, Kronenberg HM |
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| Title |
Mutation of the signal peptide-encoding region of the preproparathyroid hormone gene in familial isolated hypoparathyroidism. |
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| Journal |
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| Reference |
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| Authors |
Sunthornthepvarakul T, Churesigaew S, Ngowngarmratana S |
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| Title |
A novel mutation of the signal peptide of the preproparathyroid hormone gene associated with autosomal recessive familial isolated hypoparathyroidism. |
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| Journal |
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| LinkDB |
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