Variant: rs1555582065 

    present in Gene: UBTF;LOC101926967
    present in Chromosome: 17
    Position on Chromosome: 44212851
    Alleles of this Variant: C/T

rs1555582065 in UBTF;LOC101926967 gene and Global developmental delay PMID 29300972 2018 A recurrent de novo missense mutation in UBTF causes developmental neuroregression.

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.

rs1555582065 in UBTF;LOC101926967 gene and Nerve Degeneration PMID 29300972 2018 A recurrent de novo missense mutation in UBTF causes developmental neuroregression.

rs1555582065 in UBTF;LOC101926967 gene and Poor school performance PMID 29300972 2018 A recurrent de novo missense mutation in UBTF causes developmental neuroregression.