Variant: rs114925667 

    present in Gene: NPHP3-ACAD11;UBA5
    present in Chromosome: 3
    Position on Chromosome: 132675903
    Alleles of this Variant: G/A;T

rs114925667 in NPHP3-ACAD11;UBA5 gene and EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44 PMID 27545681 2016 Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy.

PMID 27545674 2016 Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy.

rs114925667 in NPHP3-ACAD11;UBA5 gene and X-linked infantile spasms PMID 27926783 2017 A novel approach to assess the ubiquitin-fold modifier 1-system in cells.

PMID 27545681 2016 Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy.

PMID 27545674 2016 Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy.

PMID 28965491 2017 Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters.