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Targeted gene sequencing in patients with Disorders of Sex Development
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2016-10-27
相关数据集
Grade 2/3 meningiomas
In this study, patients with intracranial meningioma who underwent surgical resection in a single institution were retrospectively reviewed. Next-generation sequencing for targeted gene regions was pe
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Targeted sequencing of candidate regions on chromosome 22q predisposing to multiple schwannomas
Constitutional LZTR1 or SMARCB1 pathogenic variants have been found in ~86% of familial and ~40% of sporadic schwannomatosis cases. Hence, we performed massively parallel sequencing of the entire LZTR
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Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitis
BackgroundMonogenic autoinflammatory diseases (AID) are a rapidly expanding group of genetically diverse but phenotypically overlapping systemic inflammatory disorders associated with dysregulated inn
Figshare2017-07-28 更新30
Supplemental Table 3_The clinical informations and targeted capture sequencing diagnosis results of 30 enrolled patients
The clinical informations and targeted capture sequencing diagnosis results of 30 enrolled patients
Figshare2020-01-22 更新60
Targeted sequencing
We generated a multiplex PCR panel to capture the coding region of 12 lipid metabolism related genesANGPTL3, ANGPTL4, APOA1, APOA5, APOC1, APOC3, CETP, LDLR, LIPC, LPL, PCSK9 and SCARB1 . All genes we
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