Williams-Beuren syndrome chromosomal region 16 protein; RCC1-like G exchanging factor-like protein (WBSCR16)
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Structure
contains 6 RCC1 repeats
Expression
Pathology
- WBSCR16 locus in the Williams-Beuren syndrome critical region
- haploinsufficiency of WBSCR16 may be the cause of certain cardiovascular & musculoskeletal abnormalities observed in the Williams-Beuren syndrome