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Introduction CNV is a vital pathogenic factor of congenital heart disease (CHD). However, few CNVs have been reported for total… Expand OBJECTIVE
We present recurrent 15q11.2 (BP1-BP2) microdeletion encompassing NIPA1, NIPA2, CYFIP1, and TUBGCP5 in a family with… Expand BACKGROUND
The 15q11.2 BP1-BP2 microdeletion (Burnside-Butler susceptibility locus) is an emerging condition with over 200… Expand Background: Copy number variation on chromosome 15q11.2 (BP1-BP2) causes a deletion of CYFIP1, NIPA1, NIPA2 and TUBGCP5… Expand Glycogen synthase kinase-3β (GSK-3β) is known to play a role in the regulation of the dynamics of microtubule networks in cells… Expand