Variant: rs587777367 

    present in Gene: LOC102723692;XYLT1
    present in Chromosome: 16
    Position on Chromosome: 17134708
    Alleles of this Variant: G/A

rs587777367 in LOC102723692;XYLT1 gene and DESBUQUOIS DYSPLASIA 2 PMID 23982343 2014 "The missing ""link"": an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation."

PMID 24581741 2014 XYLT1 mutations in Desbuquois dysplasia type 2.

PMID 28462984 2017 Endoplasmic reticulum retention of xylosyltransferase 1 (XYLT1) mutants underlying Desbuquois dysplasia type II.