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Clinical characteristics of patients with 16p13.1 duplications.

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NIAID Data Ecosystem2026-03-07 收录
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STAAD: sporadic thoracic aortic aneurysm and dissection (TAAD); FTAAD; familial TAAD; Asc: ascending; Methods of detection of the 16p13.1 duplication include the following: (A) Illumina SNP array; (B) Agilent oligonucleotide comparative genome hybridization (CGH) array; (C) Quantitative real-time PCR of probes located throughout the duplicated region; CNV start and end, beginning and end of CNV based on NCBI Build 36.1 of human reference sequence; Length: size of CNV; BAV; bicuspid aortic valve; CAD, coronary artery disease; AODM, adult onset diabetes mellitus; CHF, congestive heart failure; UNK, unknown; Neuropsych; presence of neuropsychiatric conditions; med, on medication.

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2011-06-16
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