Badrock et al., 2020 - Analysis of U8 snoRNA Variants in Zebrafish Reveals How Bi-allelic Variants Cause Leukoencephalopathy with Calcifications and Cysts. American journal of human genetics   106(5):694-706 Full text @ Am. J. Hum. Genet.
11 Genes / Markers
Marker Type Symbol Name
Gene baxa BCL2 associated X, apoptosis regulator a
Gene ccng1 cyclin G1
Gene cdkn1a cyclin dependent kinase inhibitor 1A
Gene eef1a1l1 eukaryotic translation elongation factor 1 alpha 1, like 1
Gene mdm2 MDM2 proto-oncogene
snoRNA Gene snord118a small nucleolar RNA, C/D box 118a
snoRNA Gene snord118b.1 small nucleolar RNA, C/D box 118b.1
snoRNA Gene snord118b.2 small nucleolar RNA, C/D box 118b.2
snoRNA Gene snord118b.3 small nucleolar RNA, C/D box 118b.3
snoRNA Gene snord118b.4 small nucleolar RNA, C/D box 118b.4
Gene tp53 tumor protein p53