Gene symbol and protein
Gene Location
All allelic disease phenotypes - locus/disease symbols
ASCC1
Activating signal cointegrator 1 complex subunit 1




10q22.1
* Arthrogryposis related to ASCC1 - (12.12, 16.24)
* Spinal muscular atrophy with congenital bone fractures 2 - SMABF2 (12.12, 16.24)
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