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注意:仅列出部分参考文献,下载原文获取全部文献信息。Novel CCM2 missense variants abrogating the CCM1-CCM2 interaction cause cerebral cavernous malformations
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Synopsis of Guidelines for the Clinical Management of Cerebral Cavernous Malformations: Consensus Recommendations Based on Systematic Literature Review by the Angioma Alliance Scientific Advisory Board Clinical Experts Panel
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Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
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High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one-third of probands are minors
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Structural studies of cerebral cavernous malformations 2 (CCM2) reveal a folded helical domain at its C-terminus
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CCM molecular screening in a diagnosis context: novel unclassified variants leading to abnormal splicing and importance of large deletions
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F Bergametti et al.
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