Variant: rs137853938 

    present in Gene: CRTAP
    present in Chromosome: 3
    Position on Chromosome: 33114115
    Alleles of this Variant: C/A

rs137853938 in CRTAP gene and Osteogenesis Imperfecta Type VII PMID 19550437 2009 CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis.

PMID 21955071 2012 Deficiency of CRTAP in non-lethal recessive osteogenesis imperfecta reduces collagen deposition into matrix.

PMID 17055431 2006 CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta.

PMID 18566967 2008 CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta.