rs397515546
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
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.
|
21922596 |
2012 |
rs773642745
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
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.
|
21922596 |
2012 |
rs397515546
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Multiple epiphyseal dysplasia mutations in MATN3 cause misfolding of the A-domain and prevent secretion of mutant matrilin-3.
|
16287128 |
2005 |
rs397515546
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Mutation in the von Willebrand factor-A domain is not a prerequisite for the MATN3 mutation in multiple epiphyseal dysplasia.
|
15948199 |
2005 |
rs773642745
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Multiple epiphyseal dysplasia mutations in MATN3 cause misfolding of the A-domain and prevent secretion of mutant matrilin-3.
|
16287128 |
2005 |
rs773642745
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Mutation in the von Willebrand factor-A domain is not a prerequisite for the MATN3 mutation in multiple epiphyseal dysplasia.
|
15948199 |
2005 |
rs397515546
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Missense mutations in the beta strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia.
|
14729835 |
2004 |
rs397515546
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Novel and recurrent mutations clustered in the von Willebrand factor A domain of MATN3 in multiple epiphyseal dysplasia.
|
15459972 |
2004 |
rs773642745
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Missense mutations in the beta strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia.
|
14729835 |
2004 |
rs773642745
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Novel and recurrent mutations clustered in the von Willebrand factor A domain of MATN3 in multiple epiphyseal dysplasia.
|
15459972 |
2004 |
rs397515546
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Familial multiple epiphyseal dysplasia due to a matrilin-3 mutation: further delineation of the phenotype including 40 years follow-up.
|
12884427 |
2003 |
rs773642745
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Familial multiple epiphyseal dysplasia due to a matrilin-3 mutation: further delineation of the phenotype including 40 years follow-up.
|
12884427 |
2003 |
rs397515546
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia.
|
11479597 |
2001 |
rs773642745
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia.
|
11479597 |
2001 |
rs182164052
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
rs749845872
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
rs779413744
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
rs104893637
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
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.
|
21922596 |
2012 |
rs104893640
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
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.
|
21922596 |
2012 |
rs104893641
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
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.
|
21922596 |
2012 |
rs28939677
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
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.
|
21922596 |
2012 |
rs104893637
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Multiple epiphyseal dysplasia mutations in MATN3 cause misfolding of the A-domain and prevent secretion of mutant matrilin-3.
|
16287128 |
2005 |
rs104893637
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutation in the von Willebrand factor-A domain is not a prerequisite for the MATN3 mutation in multiple epiphyseal dysplasia.
|
15948199 |
2005 |
rs104893640
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Multiple epiphyseal dysplasia mutations in MATN3 cause misfolding of the A-domain and prevent secretion of mutant matrilin-3.
|
16287128 |
2005 |
rs104893640
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutation in the von Willebrand factor-A domain is not a prerequisite for the MATN3 mutation in multiple epiphyseal dysplasia.
|
15948199 |
2005 |