| Entry |
|
|---|
| Name |
|
|---|
| Type |
Loss of function
|
|---|
| Gene |
|
|---|
| Organism |
hsa_var Human gene variants (Homo sapiens)
|
|---|
| Variation |
|
|---|
| Network |
|
|---|
| Disease |
| H00254 | Growth hormone deficiency |
|
|---|
| Reference |
|
|---|
| Authors |
Cardenas-Morales M, Hernandez-Trujillo VP |
|---|
| Title |
Agammaglobulinemia: from X-linked to Autosomal Forms of Disease. |
|---|
| Journal |
|
|---|
| Reference |
|
|---|
| Authors |
Duriez B, Duquesnoy P, Dastot F, Bougneres P, Amselem S, Goossens M |
|---|
| Title |
An exon-skipping mutation in the btk gene of a patient with X-linked agammaglobulinemia and isolated growth hormone deficiency. |
|---|
| Journal |
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|---|
| LinkDB |
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|---|
