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gene: BAZ1B

id9031
symbolBAZ1B
organismHomo sapiens
full namebromodomain adjacent to zinc finger domain 1B
summaryThis gene encodes a member of the bromodomain protein family. The bromodomain is a structural motif characteristic of proteins involved in chromatin-dependent regulation of transcription. This gene is deleted in Williams-Beuren syndrome, a developmental disorder caused by deletion of multiple genes at 7q11.23. [provided by RefSeq, Jul 2008]
variant-disease

NM_032408.4(BAZ1B):c.3071+1G>T AND not provided

GRCh37/hg19 7q11.23(chr7:72700510-72874856)x3 AND not provided

GRCh38/hg38 7q11.23(chr7:73286412-73556222)x1 AND See cases

GRCh37/hg19 7q11.23(chr7:72722981-73198616)x1 AND See cases

GRCh37/hg19 7q11.23(chr7:72686958-73113924)x3 AND not provided

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