| 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 |
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| Disease |
| H02035 | Isolated growth hormone deficiency |
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| Reference |
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|---|
| Authors |
Mullis PE |
|---|
| Title |
Genetics of isolated growth hormone deficiency. |
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| Journal |
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|---|
| Reference |
|
|---|
| Authors |
Takahashi Y, Shirono H, Arisaka O, Takahashi K, Yagi T, Koga J, Kaji H, Okimura Y, Abe H, Tanaka T, Chihara K |
|---|
| Title |
Biologically inactive growth hormone caused by an amino acid substitution. |
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| Journal |
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|---|
| Reference |
|
|---|
| Authors |
Besson A, Salemi S, Deladoey J, Vuissoz JM, Eble A, Bidlingmaier M, Burgi S, Honegger U, Fluck C, Mullis PE |
|---|
| Title |
Short stature caused by a biologically inactive mutant growth hormone (GH-C53S). |
|---|
| Journal |
|
|---|
| Reference |
|
|---|
| Authors |
Abdul-Latif H, Leiberman E, Brown MR, Carmi R, Parks JS |
|---|
| Title |
Growth hormone deficiency type IB caused by cryptic splicing of the GH-1 gene. |
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| Journal |
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| LinkDB |
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