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INPPL1 gene mutations in opsismodysplasia
The INPPL1 (inositol polyphosphate phosphatase-like 1) gene encodes the inositol phosphatase, SHIP2 (for src homology 2 domain-containing inositol phosphatase 2). SHIP2 functions to dephosphorylate, and negatively regulate, the lipid second messenger phosphatidylinositol (3,4,5)P3. SHIP2 has been we...
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| Publicado no: | J Hum Genet |
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| Main Authors: | , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2016
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5268411/ https://ncbi.nlm.nih.gov/pubmed/27708270 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/jhg.2016.119 |
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