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Homozygous variant in MADD, encoding a Rab guanine nucleotide exchange factor, results in pleiotropic effects and a multisystemic disorder
Rab proteins coordinate inter-organellar vesicle-mediated transport, facilitating intracellular communication, protein recycling, and signaling processes. Dysfunction of Rab proteins or their direct interactors leads to a wide range of diseases with diverse manifestations. We describe seven individu...
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| 出版年: | Eur J Hum Genet |
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| 主要な著者: | , , , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Springer International Publishing
2021
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8187650/ https://ncbi.nlm.nih.gov/pubmed/33723354 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-021-00844-7 |
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