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The Bone Dysplasia Ontology: integrating genotype and phenotype information in the skeletal dysplasia domain
BACKGROUND: Skeletal dysplasias are a rare and heterogeneous group of genetic disorders affecting skeletal development. Patients with skeletal dysplasias suffer from many complex medical issues including degenerative joint disease and neurological complications. Because the data and expertise associ...
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| Hlavní autoři: | , , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
BioMed Central
2012
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| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3338382/ https://ncbi.nlm.nih.gov/pubmed/22449239 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2105-13-50 |
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