rs1554787366
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Second family provides further evidence for causation of Steel syndrome by biallelic mutations in COL27A1.
|
28276056 |
2017 |
rs1554787366
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population.
|
24986830 |
2015 |
rs1554787366
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Collagen XXVII organises the pericellular matrix in the growth plate.
|
22206015 |
2011 |
rs1554787366
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
The transcription factor Lc-Maf participates in Col27a1 regulation during chondrocyte maturation.
|
19414009 |
2009 |
rs1554787366
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Genetic diseases of connective tissues: cellular and extracellular effects of ECM mutations.
|
19204719 |
2009 |
rs1554787366
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Critical early roles for col27a1a and col27a1b in zebrafish notochord morphogenesis, vertebral mineralization and post-embryonic axial growth.
|
20041163 |
2009 |
rs1554787366
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Type XXVII collagen at the transition of cartilage to bone during skeletogenesis.
|
17693149 |
2007 |
rs1554787366
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Collagen XXVII is developmentally regulated and forms thin fibrillar structures distinct from those of classical vertebrate fibrillar collagens.
|
17331945 |
2007 |
rs1554787366
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
The new collagen gene COL27A1 contains SOX9-responsive enhancer elements.
|
15922909 |
2005 |
rs1554787366
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Identification, characterization and expression analysis of a new fibrillar collagen gene, COL27A1.
|
12714037 |
2003 |
rs1554787366
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
A novel and highly conserved collagen (pro(alpha)1(XXVII)) with a unique expression pattern and unusual molecular characteristics establishes a new clade within the vertebrate fibrillar collagen family.
|
12766169 |
2003 |
rs1554787366
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9.
|
8001137 |
1994 |
rs1554787366
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene.
|
7990924 |
1994 |