Gene table: search width pubmed_id = 30327447


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Disease phenotype
Item
in
this
table
Key
references
Gene symbol (chromosome)

protein
All allelic disease phenotypes - locus/disease symbols
Arthrogryposis related to ASCC1 - (AR)
16.25
30327447
ASCC1 (10q22.1)
Activating signal cointegrator 1 complex subunit 1
* Spinal muscular atrophy with congenital bone fractures 2 - SMABF2
* Arthrogryposis related to ASCC1