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Details of EXOSC3 gene in Homo sapiens
IDs |
|---|
| Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
|
| EXOSC3 | RRP40 | Q9NQT5 | EXOS3_HUMAN | 51010
| Q9Y3A8
| 2NN6
2NN6 | progressive microce |
Disease |
|---|
| Disease |
OMIM id |
| Pontocerebellar hypoplasia 1B (PCH1B) [MIM:614678]: A severe autosomal recessive neurologic disorder characterized by a combination of cerebellar and spinal motor neuron degeneration beginning at birth. There is diffuse muscle weakness |
global developmental delay |
Orthologs in other species |
|---|
| M. musculus |
D. melonogaster |
C. elegans |
S. purpuratus |
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