Variant: rs1554022725 

    present in Gene: UFSP2;C4orf47
    present in Chromosome: 4
    Position on Chromosome: 185403540
    Alleles of this Variant: T/G

rs1554022725 in UFSP2;C4orf47 gene and HIP DYSPLASIA, BEUKES TYPE PMID 28892125 2018 Novel spondyloepimetaphyseal dysplasia due to UFSP2 gene mutation.

rs1554022725 in UFSP2;C4orf47 gene and Hip Dysplasia PMID 28892125 2018 Novel spondyloepimetaphyseal dysplasia due to UFSP2 gene mutation.

rs1554022725 in UFSP2;C4orf47 gene and SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE PMID 28892125 2018 Novel spondyloepimetaphyseal dysplasia due to UFSP2 gene mutation.

PMID 21228277 2011 Structure of ubiquitin-fold modifier 1-specific protease UfSP2.