Variant: rs552094593 

    present in Gene: GBE1
    present in Chromosome: 3
    Position on Chromosome: 81537021
    Alleles of this Variant: G/A;T

rs552094593 in GBE1 gene and Arthrogryposis PMID 31680123 2020 The genomic and clinical landscape of fetal akinesia.

rs552094593 in GBE1 gene and Early severe fetal akinesia sequence PMID 31680123 2020 The genomic and clinical landscape of fetal akinesia.