rs66883877
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV.
|
16786509 |
2006 |
rs66883877
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Osteogenesis imperfecta: clinical, biochemical and molecular findings.
|
16879195 |
2006 |
rs66883877
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Gly802Asp substitution in the pro alpha 2(I) collagen chain in a family with recurrent osteogenesis imperfecta due to paternal mosaicism.
|
8800927 |
1996 |
rs66883877
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Two additional cases of osteogenesis imperfecta with substitutions for glycine in the alpha 2(I) collagen chain. A regional model relating mutation location with phenotype.
|
7693712 |
1993 |
rs66883877
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Identification of type I collagen gene (COL1A2) mutations in nonlethal osteogenesis imperfecta.
|
8401517 |
1993 |
rs66883877
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Serine for glycine substitutions in type I collagen in two cases of type IV osteogenesis imperfecta (OI). Additional evidence for a regional model of OI pathophysiology.
|
8094076 |
1993 |
rs66883877
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Expression of mutant alpha (I)-procollagen in osteoblast and fibroblast cultures from a proband with osteogenesis imperfecta type IV.
|
1642148 |
1992 |
rs66883877
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Mutation in a gene for type I procollagen (COL1A2) in a woman with postmenopausal osteoporosis: evidence for phenotypic and genotypic overlap with mild osteogenesis imperfecta.
|
2052622 |
1991 |
rs66883877
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Characterization of a type I collagen alpha 2(I) glycine-586 to valine substitution in osteogenesis imperfecta type IV. Detection of the mutation and prenatal diagnosis by a chemical cleavage method.
|
2064612 |
1991 |
rs66883877
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Arginine for glycine substitution in the triple-helical domain of the products of one alpha 2(I) collagen allele (COL1A2) produces the osteogenesis imperfecta type IV phenotype.
|
2897363 |
1988 |
rs67525025
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
rs67768540
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
rs72656370
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
rs72656376
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
rs72656395
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
rs72658147
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
rs72658176
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
rs72658177
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
rs72658183
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
rs72659304
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|