rs61752068
|
RS1;CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
|
0.800 |
GeneticVariation |
UNIPROT |
Wild-type and missense mutants of retinoschisin co-assemble resulting in either intracellular retention or incorrect assembly of the functionally active octamer.
|
19849666 |
2009 |
rs61752068
|
RS1;CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
T |
0.800 |
CausalMutation |
CLINVAR |
Molecular genetic characteristics of X-linked retinoschisis in Koreans.
|
19390641 |
2009 |
rs61752159
|
RS1;CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Relation of response to treatment with dorzolamide in X-linked retinoschisis to the mechanism of functional loss in retinoschisin.
|
18834580 |
2009 |
rs61752159
|
RS1;CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
|
0.800 |
GeneticVariation |
UNIPROT |
Wild-type and missense mutants of retinoschisin co-assemble resulting in either intracellular retention or incorrect assembly of the functionally active octamer.
|
19849666 |
2009 |
rs61753174
|
RS1;CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
|
0.800 |
GeneticVariation |
UNIPROT |
Wild-type and missense mutants of retinoschisin co-assemble resulting in either intracellular retention or incorrect assembly of the functionally active octamer.
|
19849666 |
2009 |
rs62645894
|
RS1;CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
T |
0.800 |
CausalMutation |
CLINVAR |
Relation of response to treatment with dorzolamide in X-linked retinoschisis to the mechanism of functional loss in retinoschisin.
|
18834580 |
2009 |
rs62645894
|
RS1;CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
|
0.800 |
GeneticVariation |
UNIPROT |
Wild-type and missense mutants of retinoschisin co-assemble resulting in either intracellular retention or incorrect assembly of the functionally active octamer.
|
19849666 |
2009 |
rs104894928
|
RS1;CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
|
0.800 |
GeneticVariation |
UNIPROT |
Clinical and genetic findings in Hungarian patients with X-linked juvenile retinoschisis.
|
19093009 |
2008 |
rs104894929
|
RS1;CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
|
0.800 |
GeneticVariation |
UNIPROT |
Clinical and genetic findings in Hungarian patients with X-linked juvenile retinoschisis.
|
19093009 |
2008 |
rs104894930
|
RS1;CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
A |
0.800 |
CausalMutation |
CLINVAR |
Retinal morphological changes of patients with X-linked retinoschisis evaluated by Fourier-domain optical coherence tomography.
|
18541843 |
2008 |
rs104894930
|
RS1;CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
|
0.800 |
GeneticVariation |
UNIPROT |
Clinical and genetic findings in Hungarian patients with X-linked juvenile retinoschisis.
|
19093009 |
2008 |
rs104894932
|
RS1;CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
|
0.800 |
GeneticVariation |
UNIPROT |
Clinical and genetic findings in Hungarian patients with X-linked juvenile retinoschisis.
|
19093009 |
2008 |
rs104894933
|
RS1;CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
|
0.800 |
GeneticVariation |
UNIPROT |
Clinical and genetic findings in Hungarian patients with X-linked juvenile retinoschisis.
|
19093009 |
2008 |
rs104894934
|
RS1;CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
|
0.800 |
GeneticVariation |
UNIPROT |
Clinical and genetic findings in Hungarian patients with X-linked juvenile retinoschisis.
|
19093009 |
2008 |
rs281865355
|
RS1;CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
|
0.800 |
GeneticVariation |
UNIPROT |
Clinical and genetic findings in Hungarian patients with X-linked juvenile retinoschisis.
|
19093009 |
2008 |
rs281865361
|
RS1;CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Clinical and genetic findings in Hungarian patients with X-linked juvenile retinoschisis.
|
19093009 |
2008 |
rs281865361
|
RS1;CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
|
0.800 |
GeneticVariation |
UNIPROT |
Clinical and genetic findings in Hungarian patients with X-linked juvenile retinoschisis.
|
19093009 |
2008 |
rs61752060
|
RS1;CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
C |
0.800 |
GeneticVariation |
CLINVAR |
ERG variability in X-linked congenital retinoschisis patients with mutations in the RS1 gene and the diagnostic importance of fundus autofluorescence and OCT.
|
17987333 |
2008 |
rs61752060
|
RS1;CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
|
0.800 |
GeneticVariation |
UNIPROT |
Clinical and genetic findings in Hungarian patients with X-linked juvenile retinoschisis.
|
19093009 |
2008 |
rs61752063
|
RS1;CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
|
0.800 |
GeneticVariation |
UNIPROT |
Clinical and genetic findings in Hungarian patients with X-linked juvenile retinoschisis.
|
19093009 |
2008 |
rs61752067
|
RS1;CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
|
0.800 |
GeneticVariation |
UNIPROT |
Clinical and genetic findings in Hungarian patients with X-linked juvenile retinoschisis.
|
19093009 |
2008 |
rs61752068
|
RS1;CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
T |
0.800 |
CausalMutation |
CLINVAR |
Novel XLRS1 gene mutations cause X-linked juvenile retinoschisis in Chinese families.
|
18369700 |
2008 |
rs61752068
|
RS1;CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
T |
0.800 |
CausalMutation |
CLINVAR |
ERG variability in X-linked congenital retinoschisis patients with mutations in the RS1 gene and the diagnostic importance of fundus autofluorescence and OCT.
|
17987333 |
2008 |
rs61752068
|
RS1;CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
|
0.800 |
GeneticVariation |
UNIPROT |
Clinical and genetic findings in Hungarian patients with X-linked juvenile retinoschisis.
|
19093009 |
2008 |
rs61752159
|
RS1;CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Clinical and genetic findings in Hungarian patients with X-linked juvenile retinoschisis.
|
19093009 |
2008 |