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Inherited glycophosphatidylinositol deficiency variant database and analysis of pathogenic variants
BACKGROUND: Glycophosphatidylinositol‐anchored proteins (GPI‐APs) mediate several physiological processes such as embryogenesis and neurogenesis. Germline variants in genes involved in their synthesis can disrupt normal development and result in a variety of clinical phenotypes. With the advent of n...
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| Izdano u: | Mol Genet Genomic Med |
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| Glavni autori: | , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
John Wiley and Sons Inc.
2019
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| Teme: | |
| Online pristup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6625143/ https://ncbi.nlm.nih.gov/pubmed/31127708 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.743 |
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