Unlu et al., 2020 - Phenome-based approach identifies RIC1-linked Mendelian syndrome through zebrafish models, biobank associations and clinical studies. Nature medicine   26:98-109 Full text @ Nat. Med.
4 Genes / Markers
Marker Type Symbol Name
Gene col2a1a collagen, type II, alpha 1a
Gene h2az2a H2A.Z variant histone 2a
Gene rgp1 GP1 homolog, RAB6A GEF complex partner 1
Gene ric1 RIC1 homolog, RAB6A GEF complex partner 1