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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Gene Review: 

WBSCR17  -  Williams-Beuren syndrome chromosome region 17

Homo sapiens

Synonyms: GALNACT17, GALNT16, GALNT20, GALNTL3, GalNAc-T-like protein 3, ...
 
 
 
 
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Disease relevance of WBSCR17

  • It was also found that human pt-GalNAc-T was identical to the gene WBSCR17, which is reported to be in the critical region of patients with Williams-Beuren Syndrome, a neurodevelopmental disorder, and to be predominantly expressed in brain and heart [1].

References

  1. Cloning and expression of a brain-specific putative UDP-GalNAc: polypeptide N-acetylgalactosaminyltransferase gene. Nakamura, N., Toba, S., Hirai, M., Morishita, S., Mikami, T., Konishi, M., Itoh, N., Kurosaka, A. Biol. Pharm. Bull. (2005) [Pubmed]
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