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GNAS hyperfunction

Disease Summary
Associated Targets (4)
Tbio

4


Uniprot Description This condition is characterized by increased trauma-related bleeding tendency, prolonged bleeding time, brachydactyly and mental retardation. Both the XLas isoforms and the ALEX protein are mutated which strongly reduces the interaction between them and this may allow unimpeded activation of the XLas isoforms.
DataSource References
UniProt Disease:  OMIM:139320