rs154774633
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6.
|
21549341 |
2011 |
rs154774634
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6.
|
21549341 |
2011 |
rs154774635
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6.
|
21549341 |
2011 |
rs154774636
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6.
|
21549341 |
2011 |
rs154774638
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6.
|
21549341 |
2011 |
rs154774641
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6.
|
21549341 |
2011 |
rs63750391
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The pathogenic M146I mutation in PSEN1, and instrumental findings common to adult neuronal ceroid lipofuscinosis were found in the same patient.
|
21212640 |
2011 |
rs387907043
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Mutations in CSPα (i.e., Leu115 to Arg substitution or deletion (Δ) of Leu116) cause adult neuronal ceroid lipofuscinosis (ANCL), a dominantly inherited neurodegenerative disease.
|
25905915 |
2015 |
rs765758974
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here, we report a sporadic case of Kufs disease type B with novel compound heterozygous mutations, a novel missense mutation c.977G>T (p.C326F) and a novel nonsense mutation c.416C>A (p.S139X), in the cathepsin-F gene.
|
29120254 |
2018 |