|
rs72654802
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Mutations in COL1A1 and COL1A2 and dental aberrations in children and adolescents with osteogenesis imperfecta - A retrospective cohort study.
|
28498836 |
2017 |
|
rs72654802
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Mutational analysis of COL1A1 and COL1A2 genes among Estonian osteogenesis imperfecta patients.
|
28810924 |
2017 |
|
rs72654802
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
DNA sequence analysis in 598 individuals with a clinical diagnosis of osteogenesis imperfecta: diagnostic yield and mutation spectrum.
|
27509835 |
2016 |
|
rs72654802
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta.
|
25944380 |
2015 |
|
rs72654802
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta.
|
26177859 |
2015 |
|
rs72654802
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
The identification of novel mutations in COL1A1, COL1A2, and LEPRE1 genes in Chinese patients with osteogenesis imperfecta.
|
21667357 |
2012 |
|
rs72654802
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
The missense mutation c.3235G>A was identified within exon 45 of the COL1A1 gene in a 16-year-old girl diagnosed as having OI type I; it resulted in substitution of a glycine residue (G) by a serine (S) at codon 1079 (p.G1079S).
|
23079818 |
2012 |
|
rs72654802
|
|
|
0.710 |
GeneticVariation |
BEFREE |
The missense mutation c.3235G>A was identified within exon 45 of the COL1A1 gene in a 16-year-old girl diagnosed as having OI type I; it resulted in substitution of a glycine residue (G) by a serine (S) at codon 1079 (p.G1079S).
|
23079818 |
2012 |
|
rs72654802
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Hyperuricemia cosegregating with osteogenesis imperfecta is associated with a mutation in GPATCH8.
|
21594610 |
2011 |
|
rs72654802
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Collagen structure and stability.
|
19344236 |
2009 |
|
rs72654802
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Evidence that abnormal high bone mineralization in growing children with osteogenesis imperfecta is not associated with specific collagen mutations.
|
18311573 |
2008 |
|
rs72654802
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Recombinant collagen studies link the severe conformational changes induced by osteogenesis imperfecta mutations to the disruption of a set of interchain salt bridges.
|
18845533 |
2008 |
|
rs72654802
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Crystal and molecular structure of a collagen-like peptide at 1.9 A resolution.
|
7695699 |
1994 |
|
rs72654802
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Characterization of collagen-like peptides containing interruptions in the repeating Gly-X-Y sequence.
|
8218237 |
1993 |
|
rs72654802
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Mild dominant osteogenesis imperfecta with intrafamilial variability: the cause is a serine for glycine alpha 1(I) 901 substitution in a type-I collagen gene.
|
1634225 |
1992 |