rs281865355
|
RS1;CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Segmented swept source optical coherence tomography angiography assessment of the perifoveal vasculature in patients with X-linked juvenile retinoschisis: a serial case report.
|
29081674 |
2017 |
rs281865355
|
RS1;CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Proteomic profiling of human intraschisis cavity fluid.
|
28450823 |
2017 |
rs281865361
|
RS1;CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Genetic analysis and clinical features of X-linked retinoschisis in Chinese patients.
|
28272453 |
2017 |
rs104894928
|
RS1;CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
|
0.800 |
GeneticVariation |
UNIPROT |
Structural analysis of X-linked retinoschisis mutations reveals distinct classes which differentially effect retinoschisin function.
|
27798099 |
2016 |
rs104894929
|
RS1;CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
|
0.800 |
GeneticVariation |
UNIPROT |
Structural analysis of X-linked retinoschisis mutations reveals distinct classes which differentially effect retinoschisin function.
|
27798099 |
2016 |
rs104894930
|
RS1;CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
|
0.800 |
GeneticVariation |
UNIPROT |
Structural analysis of X-linked retinoschisis mutations reveals distinct classes which differentially effect retinoschisin function.
|
27798099 |
2016 |
rs104894932
|
RS1;CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
|
0.800 |
GeneticVariation |
UNIPROT |
Structural analysis of X-linked retinoschisis mutations reveals distinct classes which differentially effect retinoschisin function.
|
27798099 |
2016 |
rs104894933
|
RS1;CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
|
0.800 |
GeneticVariation |
UNIPROT |
Structural analysis of X-linked retinoschisis mutations reveals distinct classes which differentially effect retinoschisin function.
|
27798099 |
2016 |
rs104894934
|
RS1;CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
|
0.800 |
GeneticVariation |
UNIPROT |
Structural analysis of X-linked retinoschisis mutations reveals distinct classes which differentially effect retinoschisin function.
|
27798099 |
2016 |
rs281865355
|
RS1;CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Dramatic regression of macular and peripheral retinoschisis with dorzolamide 2 % in X-linked retinoschisis: a case report.
|
27246168 |
2016 |
rs281865355
|
RS1;CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
|
0.800 |
GeneticVariation |
UNIPROT |
Structural analysis of X-linked retinoschisis mutations reveals distinct classes which differentially effect retinoschisin function.
|
27798099 |
2016 |
rs281865361
|
RS1;CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
|
0.800 |
GeneticVariation |
UNIPROT |
Structural analysis of X-linked retinoschisis mutations reveals distinct classes which differentially effect retinoschisin function.
|
27798099 |
2016 |
rs61752060
|
RS1;CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
|
0.800 |
GeneticVariation |
UNIPROT |
Structural analysis of X-linked retinoschisis mutations reveals distinct classes which differentially effect retinoschisin function.
|
27798099 |
2016 |
rs61752063
|
RS1;CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
|
0.800 |
GeneticVariation |
UNIPROT |
Structural analysis of X-linked retinoschisis mutations reveals distinct classes which differentially effect retinoschisin function.
|
27798099 |
2016 |
rs61752067
|
RS1;CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
|
0.800 |
GeneticVariation |
UNIPROT |
Structural analysis of X-linked retinoschisis mutations reveals distinct classes which differentially effect retinoschisin function.
|
27798099 |
2016 |
rs61752068
|
RS1;CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
|
0.800 |
GeneticVariation |
UNIPROT |
Structural analysis of X-linked retinoschisis mutations reveals distinct classes which differentially effect retinoschisin function.
|
27798099 |
2016 |
rs61752159
|
RS1;CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
|
0.800 |
GeneticVariation |
UNIPROT |
Structural analysis of X-linked retinoschisis mutations reveals distinct classes which differentially effect retinoschisin function.
|
27798099 |
2016 |
rs61753174
|
RS1;CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
|
0.800 |
GeneticVariation |
UNIPROT |
Structural analysis of X-linked retinoschisis mutations reveals distinct classes which differentially effect retinoschisin function.
|
27798099 |
2016 |
rs62645894
|
RS1;CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
|
0.800 |
GeneticVariation |
UNIPROT |
Structural analysis of X-linked retinoschisis mutations reveals distinct classes which differentially effect retinoschisin function.
|
27798099 |
2016 |
rs104894930
|
RS1;CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
A |
0.800 |
CausalMutation |
CLINVAR |
Detailed Morphological Changes of Foveoschisis in Patient with X-Linked Retinoschisis Detected by SD-OCT and Adaptive Optics Fundus Camera.
|
26356828 |
2015 |
rs61753174
|
RS1;CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Resolution of mid-peripheral schisis in x-linked retinoschisis with the use of dorzolamide.
|
23514609 |
2014 |
rs281865355
|
RS1;CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Molecular modeling indicates distinct classes of missense variants with mild and severe XLRS phenotypes.
|
23847049 |
2013 |
rs61753174
|
RS1;CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
A |
0.800 |
GeneticVariation |
CLINVAR |
A phenotype-genotype correlation study of X-linked retinoschisis.
|
23453514 |
2013 |
rs62645894
|
RS1;CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
T |
0.800 |
CausalMutation |
CLINVAR |
Molecular modeling indicates distinct classes of missense variants with mild and severe XLRS phenotypes.
|
23847049 |
2013 |
rs61752068
|
RS1;CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
T |
0.800 |
CausalMutation |
CLINVAR |
Novel clinical manifestation of congenital X-linked retinoschisis.
|
22332228 |
2012 |