rs121912878
|
|
Achondrogenesis type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
"A familial case of achondrogenesis type II caused by a dominant COL2A1 mutation and ""patchy"" expression in the mosaic father."
|
17994563 |
2007 |
rs121912878
|
|
Achondrogenesis type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Recurrence of achondrogenesis type II within the same family: evidence for germline mosaicism.
|
15054848 |
2004 |
rs121912878
|
|
Achondrogenesis type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder.
|
10745044 |
2000 |
rs121912878
|
|
Achondrogenesis type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Widely distributed mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesis.
|
10797431 |
2000 |
rs121912878
|
|
Achondrogenesis type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A radiographic, morphologic, biochemical and molecular analysis of a case of achondrogenesis type II resulting from substitution for a glycine residue (Gly691-->Arg) in the type II collagen trimer.
|
7757081 |
1995 |
rs121912878
|
|
Achondrogenesis type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A COL2A1 mutation in achondrogenesis type II results in the replacement of type II collagen by type I and III collagens in cartilage.
|
7829510 |
1995 |
rs121912878
|
|
Achondrogenesis type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Three new point mutations in type II procollagen (COL2A1) and identification of a fourth family with the COL2A1 Arg519-->Cys base substitution using conformation sensitive gel electrophoresis.
|
7757086 |
1995 |
rs121912878
|
|
Achondrogenesis type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Glycine to serine substitution in the triple helical domain of pro-alpha 1 (II) collagen results in a lethal perinatal form of short-limbed dwarfism.
|
2572591 |
1989 |
rs121912879
|
|
Achondrogenesis type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
"A familial case of achondrogenesis type II caused by a dominant COL2A1 mutation and ""patchy"" expression in the mosaic father."
|
17994563 |
2007 |
rs121912879
|
|
Achondrogenesis type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Recurrence of achondrogenesis type II within the same family: evidence for germline mosaicism.
|
15054848 |
2004 |
rs121912879
|
|
Achondrogenesis type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Widely distributed mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesis.
|
10797431 |
2000 |
rs121912879
|
|
Achondrogenesis type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder.
|
10745044 |
2000 |
rs121912879
|
|
Achondrogenesis type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A radiographic, morphologic, biochemical and molecular analysis of a case of achondrogenesis type II resulting from substitution for a glycine residue (Gly691-->Arg) in the type II collagen trimer.
|
7757081 |
1995 |
rs121912879
|
|
Achondrogenesis type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A COL2A1 mutation in achondrogenesis type II results in the replacement of type II collagen by type I and III collagens in cartilage.
|
7829510 |
1995 |
rs121912879
|
|
Achondrogenesis type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Three new point mutations in type II procollagen (COL2A1) and identification of a fourth family with the COL2A1 Arg519-->Cys base substitution using conformation sensitive gel electrophoresis.
|
7757086 |
1995 |
rs121912879
|
|
Achondrogenesis type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Glycine to serine substitution in the triple helical domain of pro-alpha 1 (II) collagen results in a lethal perinatal form of short-limbed dwarfism.
|
2572591 |
1989 |
rs121912888
|
|
Achondrogenesis type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
"A familial case of achondrogenesis type II caused by a dominant COL2A1 mutation and ""patchy"" expression in the mosaic father."
|
17994563 |
2007 |
rs121912888
|
|
Achondrogenesis type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Recurrence of achondrogenesis type II within the same family: evidence for germline mosaicism.
|
15054848 |
2004 |
rs121912888
|
|
Achondrogenesis type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Widely distributed mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesis.
|
10797431 |
2000 |
rs121912888
|
|
Achondrogenesis type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder.
|
10745044 |
2000 |
rs121912888
|
|
Achondrogenesis type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A radiographic, morphologic, biochemical and molecular analysis of a case of achondrogenesis type II resulting from substitution for a glycine residue (Gly691-->Arg) in the type II collagen trimer.
|
7757081 |
1995 |
rs121912888
|
|
Achondrogenesis type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Three new point mutations in type II procollagen (COL2A1) and identification of a fourth family with the COL2A1 Arg519-->Cys base substitution using conformation sensitive gel electrophoresis.
|
7757086 |
1995 |
rs121912888
|
|
Achondrogenesis type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A COL2A1 mutation in achondrogenesis type II results in the replacement of type II collagen by type I and III collagens in cartilage.
|
7829510 |
1995 |
rs121912888
|
|
Achondrogenesis type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Glycine to serine substitution in the triple helical domain of pro-alpha 1 (II) collagen results in a lethal perinatal form of short-limbed dwarfism.
|
2572591 |
1989 |
rs1555167156
|
|
Achondrogenesis type 2
|
|
0.700 |
GeneticVariation
|
UNIPROT |
"A familial case of achondrogenesis type II caused by a dominant COL2A1 mutation and ""patchy"" expression in the mosaic father."
|
17994563 |
2007 |