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DECIPHER: web-based, community resource for clinical interpretation of rare variants in developmental disorders
Patients with developmental disorders often harbour sub-microscopic deletions or duplications that lead to a disruption of normal gene expression or perturbation in the copy number of dosage-sensitive genes. Clinical interpretation for such patients in isolation is hindered by the rarity and novelty...
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| Main Authors: | , , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Oxford University Press
2012
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3459644/ https://ncbi.nlm.nih.gov/pubmed/22962312 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/dds362 |
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