Condition: NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY
rs1555582065
in
UBTF;LOC101926967
gene and
NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY
PMID 28777933
2017 Heterozygous De Novo UBTF Gain-of-Function Variant Is Associated with Neurodegeneration in Childhood.