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BFP and ABCA4 sequencing to compare the efficiency of CBE
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2023-01-04
相关数据集
Supplemental Table 3_The clinical informations and targeted capture sequencing diagnosis results of 30 enrolled patients
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Barcode diversity and mutation coverage analysis per transformants.
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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
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