Variant: rs104893637 

    present in Gene: MATN3
    present in Chromosome: 2
    Position on Chromosome: 20006173
    Alleles of this Variant: G/A

rs104893637 in MATN3 gene and EPIPHYSEAL DYSPLASIA, MULTIPLE, 5 PMID 11479597 2001 Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia.

PMID 21922596 2012 Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution.

PMID 14729835 2004 Missense mutations in the beta strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia.

PMID 15948199 2005 Mutation in the von Willebrand factor-A domain is not a prerequisite for the MATN3 mutation in multiple epiphyseal dysplasia.

PMID 15459972 2004 Novel and recurrent mutations clustered in the von Willebrand factor A domain of MATN3 in multiple epiphyseal dysplasia.

PMID 12884427 2003 Familial multiple epiphyseal dysplasia due to a matrilin-3 mutation: further delineation of the phenotype including 40 years follow-up.

PMID 16287128 2005 Multiple epiphyseal dysplasia mutations in MATN3 cause misfolding of the A-domain and prevent secretion of mutant matrilin-3.