| Entry |
|
|---|
| Name |
|
|---|
| Type |
Loss of function
|
|---|
| Gene |
|
|---|
| Organism |
hsa_var Human gene variants (Homo sapiens)
|
|---|
| Variation |
|
|---|
| Network |
nt06539 Cytoskeleton in muscle cells |
|---|
| Disease |
| H00476 | Multiple epiphyseal dysplasia |
| H02539 | Intervertebral disc disease |
|
|---|
| Reference |
|
|---|
| Authors |
Dennis EP, Greenhalgh-Maychell PL, Briggs MD |
|---|
| Title |
Multiple epiphyseal dysplasia and related disorders: Molecular genetics, disease mechanisms, and therapeutic avenues. |
|---|
| Journal |
|
|---|
| Reference |
|
|---|
| Authors |
Faletra F, D'Adamo AP, Bruno I, Athanasakis E, Biskup S, Esposito L, Gasparini P |
|---|
| Title |
Autosomal recessive Stickler syndrome due to a loss of function mutation in the COL9A3 gene. |
|---|
| Journal |
|
|---|
| LinkDB |
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|---|
