rs185142838
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care.
|
26204423 |
2016 |
rs185142838
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Novel missense mutations in a conserved loop between ERCC6 (CSB) helicase motifs V and VI: Insights into Cockayne syndrome.
|
26749132 |
2016 |
rs185142838
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Cerebro-oculo-facio-skeletal syndrome: three additional cases with CSB mutations, new diagnostic criteria and an approach to investigation.
|
18628313 |
2008 |
rs185142838
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Cockayne syndrome: the expanding clinical and mutational spectrum.
|
23428416 |
2013 |
rs185142838
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.
|
19894250 |
2010 |
rs185142838
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Xeroderma pigmentosum and Cockayne syndrome: overlapping clinical and biochemical phenotypes.
|
1372469 |
1992 |
rs185142838
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Identical mutations in the CSB gene associated with either Cockayne syndrome or the DeSanctis-cacchione variant of xeroderma pigmentosum.
|
10767341 |
2000 |
rs202080674
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Xeroderma pigmentosum and Cockayne syndrome: overlapping clinical and biochemical phenotypes.
|
1372469 |
1992 |
rs202080674
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Cockayne syndrome: the expanding clinical and mutational spectrum.
|
23428416 |
2013 |
rs202080674
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.
|
19894250 |
2010 |
rs202080674
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Cerebro-oculo-facio-skeletal syndrome: three additional cases with CSB mutations, new diagnostic criteria and an approach to investigation.
|
18628313 |
2008 |
rs202080674
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Identical mutations in the CSB gene associated with either Cockayne syndrome or the DeSanctis-cacchione variant of xeroderma pigmentosum.
|
10767341 |
2000 |
rs202080674
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care.
|
26204423 |
2016 |
rs202080674
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Novel missense mutations in a conserved loop between ERCC6 (CSB) helicase motifs V and VI: Insights into Cockayne syndrome.
|
26749132 |
2016 |
rs376526037
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Novel missense mutations in a conserved loop between ERCC6 (CSB) helicase motifs V and VI: Insights into Cockayne syndrome.
|
26749132 |
2016 |
rs376526037
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Xeroderma pigmentosum and Cockayne syndrome: overlapping clinical and biochemical phenotypes.
|
1372469 |
1992 |
rs376526037
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.
|
19894250 |
2010 |
rs376526037
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Cerebro-oculo-facio-skeletal syndrome: three additional cases with CSB mutations, new diagnostic criteria and an approach to investigation.
|
18628313 |
2008 |
rs376526037
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Cockayne syndrome: the expanding clinical and mutational spectrum.
|
23428416 |
2013 |
rs376526037
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Identical mutations in the CSB gene associated with either Cockayne syndrome or the DeSanctis-cacchione variant of xeroderma pigmentosum.
|
10767341 |
2000 |
rs376526037
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care.
|
26204423 |
2016 |
rs1554794342
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care.
|
26204423 |
2016 |
rs1554794342
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Cerebro-oculo-facio-skeletal syndrome: three additional cases with CSB mutations, new diagnostic criteria and an approach to investigation.
|
18628313 |
2008 |
rs1554794342
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Novel missense mutations in a conserved loop between ERCC6 (CSB) helicase motifs V and VI: Insights into Cockayne syndrome.
|
26749132 |
2016 |
rs1554794342
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Cockayne syndrome: the expanding clinical and mutational spectrum.
|
23428416 |
2013 |