|
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mutation analysis of the COL1A1 and COL1A2 genes in Vietnamese patients with osteogenesis imperfecta.
|
27519266 |
2016 |
|
Lobstein Disease
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mutation analysis of the COL1A1 and COL1A2 genes in Vietnamese patients with osteogenesis imperfecta.
|
27519266 |
2016 |
|
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
|
|
0.700 |
CausalMutation
|
CLINVAR |
Genotype and phenotype analysis of Taiwanese patients with osteogenesis imperfecta.
|
26627451 |
2015 |
|
Lobstein Disease
|
|
0.700 |
CausalMutation
|
CLINVAR |
Genotype and phenotype analysis of Taiwanese patients with osteogenesis imperfecta.
|
26627451 |
2015 |
|
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
|
|
0.700 |
CausalMutation
|
CLINVAR |
Cardiopulmonary dysfunction in the Osteogenesis imperfecta mouse model Aga2 and human patients are caused by bone-independent mechanisms.
|
22589248 |
2012 |
|
Lobstein Disease
|
|
0.700 |
CausalMutation
|
CLINVAR |
Cardiopulmonary dysfunction in the Osteogenesis imperfecta mouse model Aga2 and human patients are caused by bone-independent mechanisms.
|
22589248 |
2012 |
|
Lobstein Disease
|
|
0.700 |
CausalMutation
|
CLINVAR |
Osteogenesis Imperfecta: the audiological phenotype lacks correlation with the genotype.
|
22206639 |
2011 |
|
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
|
|
0.700 |
CausalMutation
|
CLINVAR |
Osteogenesis Imperfecta: the audiological phenotype lacks correlation with the genotype.
|
22206639 |
2011 |
|
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
|
|
0.700 |
CausalMutation
|
CLINVAR |
Collagen structure and stability.
|
19344236 |
2009 |
|
Lobstein Disease
|
|
0.700 |
CausalMutation
|
CLINVAR |
Collagen structure and stability.
|
19344236 |
2009 |
|
Lobstein Disease
|
|
0.700 |
CausalMutation
|
CLINVAR |
Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans.
|
17078022 |
2007 |
|
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
|
|
0.700 |
CausalMutation
|
CLINVAR |
Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans.
|
17078022 |
2007 |
|
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
|
|
0.700 |
CausalMutation
|
CLINVAR |
The human type I collagen mutation database.
|
9016532 |
1997 |
|
Lobstein Disease
|
|
0.700 |
CausalMutation
|
CLINVAR |
The human type I collagen mutation database.
|
9016532 |
1997 |
|
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
|
|
0.700 |
CausalMutation
|
CLINVAR |
Direct sequencing of PCR products derived from cDNAs for the pro alpha 1 and pro alpha 2 chains of type I procollagen as a screening method to detect mutations in patients with osteogenesis imperfecta.
|
8829649 |
1996 |
|
Lobstein Disease
|
|
0.700 |
CausalMutation
|
CLINVAR |
Direct sequencing of PCR products derived from cDNAs for the pro alpha 1 and pro alpha 2 chains of type I procollagen as a screening method to detect mutations in patients with osteogenesis imperfecta.
|
8829649 |
1996 |
|
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
|
|
0.700 |
CausalMutation
|
CLINVAR |
Crystal and molecular structure of a collagen-like peptide at 1.9 A resolution.
|
7695699 |
1994 |
|
Lobstein Disease
|
|
0.700 |
CausalMutation
|
CLINVAR |
Crystal and molecular structure of a collagen-like peptide at 1.9 A resolution.
|
7695699 |
1994 |
|
Lobstein Disease
|
|
0.700 |
CausalMutation
|
CLINVAR |
Characterization of collagen-like peptides containing interruptions in the repeating Gly-X-Y sequence.
|
8218237 |
1993 |
|
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
|
|
0.700 |
CausalMutation
|
CLINVAR |
Characterization of collagen-like peptides containing interruptions in the repeating Gly-X-Y sequence.
|
8218237 |
1993 |
|
Osteogenesis imperfecta type III (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
|
|
|