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Ultra-rare renal diseases diagnosed with whole-exome sequencing: Utility in diagnosis and management
BACKGROUND: This study aimed to use whole-exome sequencing (WES) to diagnose ultra-rare renal diseases and the clinical impact of such an approach on patient care. METHODS: Clinical, radiological, pathological, and genetic findings were reviewed in the patients and their family members. RESULTS: Nin...
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| 出版年: | BMC Med Genomics |
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| 主要な著者: | , , , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
BioMed Central
2021
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8254264/ https://ncbi.nlm.nih.gov/pubmed/34217267 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12920-021-01026-6 |
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