Entrez Id: |
2121 |
Gene Symbol: |
EVC |
EVC
|
Ellis-Van Creveld Syndrome
|
0.960 |
CausalMutation |
CLINVAR |
Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies.
|
29068549 |
2018 |
Entrez Id: |
2121 |
Gene Symbol: |
EVC |
EVC
|
Ellis-Van Creveld Syndrome
|
0.960 |
GeneticVariation |
CLINVAR |
Ellis-van Creveld syndrome and profound deafness resulted by sequence variants in the EVC/EVC2 and TMC1 genes.
|
29321360 |
2017 |
Entrez Id: |
2121 |
Gene Symbol: |
EVC |
EVC
|
Ellis-Van Creveld Syndrome
|
0.960 |
CausalMutation |
CLINVAR |
Wide-spread cone-shaped epiphyses in two Saudi siblings with Ellis-van Creveld syndrome.
|
28854412 |
2017 |
Entrez Id: |
2121 |
Gene Symbol: |
EVC |
EVC
|
Ellis-Van Creveld Syndrome
|
0.960 |
GeneticVariation |
CLINVAR |
In 5 unrelated cases with a clinical diagnosis of Ellis van Creveld syndrome, we did not find any mutation in either EVC or EVC2 genes.
|
23220543 |
2013 |
Entrez Id: |
2121 |
Gene Symbol: |
EVC |
EVC
|
Ellis-Van Creveld Syndrome
|
0.960 |
CausalMutation |
CLINVAR |
In 5 unrelated cases with a clinical diagnosis of Ellis van Creveld syndrome, we did not find any mutation in either EVC or EVC2 genes.
|
23220543 |
2013 |
Entrez Id: |
2121 |
Gene Symbol: |
EVC |
EVC
|
Ellis-Van Creveld Syndrome
|
0.960 |
CausalMutation |
CLINVAR |
Molecular and clinical analysis of Ellis-van Creveld syndrome in the United Arab Emirates.
|
20184732 |
2010 |
Entrez Id: |
2121 |
Gene Symbol: |
EVC |
EVC
|
Ellis-Van Creveld Syndrome
|
0.960 |
GeneticVariation |
CLINVAR |
A novel missense mutation in the EVC gene underlies Ellis-van Creveld syndrome in a Pakistani family.
|
19744229 |
2010 |
Entrez Id: |
2121 |
Gene Symbol: |
EVC |
EVC
|
Ellis-Van Creveld Syndrome
|
0.960 |
GeneticVariation |
CLINVAR |
Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling.
|
19810119 |
2009 |
Entrez Id: |
2121 |
Gene Symbol: |
EVC |
EVC
|
Ellis-Van Creveld Syndrome
|
0.960 |
CausalMutation |
CLINVAR |
Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling.
|
19810119 |
2009 |
Entrez Id: |
2121 |
Gene Symbol: |
EVC |
EVC
|
Ellis-Van Creveld Syndrome
|
0.960 |
GeneticVariation |
CLINVAR |
Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients.
|
17024374 |
2007 |
Entrez Id: |
2121 |
Gene Symbol: |
EVC |
EVC
|
Ellis-Van Creveld Syndrome
|
0.960 |
CausalMutation |
CLINVAR |
Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients.
|
17024374 |
2007 |
Entrez Id: |
2121 |
Gene Symbol: |
EVC |
EVC
|
Ellis-Van Creveld Syndrome
|
0.960 |
GeneticVariation |
CLINVAR |
Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis.
|
10700184 |
2000 |
Entrez Id: |
2121 |
Gene Symbol: |
EVC |
EVC
|
Ellis-Van Creveld Syndrome
|
0.960 |
CausalMutation |
CLINVAR |
Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis.
|
10700184 |
2000 |