rs797044850
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Normal spastin gene dosage is specifically required for axon regeneration.
|
23122959 |
2012 |
rs797044850
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia.
|
10699187 |
2000 |
rs797044850
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Infantile hereditary spastic paraparesis due to codominant mutations in the spastin gene.
|
15326248 |
2004 |
rs797044850
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia.
|
11309678 |
2001 |
rs797044850
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.
|
24267886 |
2013 |
rs797044850
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Pathogenic mutation of spastin has gain-of-function effects on microtubule dynamics.
|
24478365 |
2014 |
rs797044850
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Spastin gene mutations in Bulgarian patients with hereditary spastic paraplegia.
|
17100993 |
2006 |
rs797044850
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Molecular spectrum of the SPAST, ATL1 and REEP1 gene mutations associated with the most common hereditary spastic paraplegias in a group of Polish patients.
|
26671083 |
2015 |
rs797044850
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Mutational spectrum of the SPAST and ATL1 genes in Korean patients with hereditary spastic paraplegia.
|
26208798 |
2015 |
rs797044850
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Hereditary spastic paraplegia SPG4: what is known and not known about the disease.
|
26094131 |
2015 |
rs797044850
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
A complex form of hereditary spastic paraplegia in three siblings due to somatic mosaicism for a novel SPAST mutation in the mother.
|
25315759 |
2014 |
rs797044850
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Hereditary spastic paraparesis: disrupted intracellular transport associated with spastin mutation.
|
14681884 |
2003 |
rs797044850
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
A mutation of spastin is responsible for swellings and impairment of transport in a region of axon characterized by changes in microtubule composition.
|
17101632 |
2006 |
rs797044850
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Direct evidence for axonal transport defects in a novel mouse model of mutant spastin-induced hereditary spastic paraplegia (HSP) and human HSP patients.
|
19453301 |
2009 |
rs797044850
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance.
|
22554690 |
2012 |
rs797044850
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia.
|
10610178 |
1999 |
rs797044850
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Exome sequencing is a useful diagnostic tool for complicated forms of hereditary spastic paraplegia.
|
23438842 |
2014 |
rs1553317028
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
A complex form of hereditary spastic paraplegia in three siblings due to somatic mosaicism for a novel SPAST mutation in the mother.
|
25315759 |
2014 |
rs1553317028
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Molecular spectrum of the SPAST, ATL1 and REEP1 gene mutations associated with the most common hereditary spastic paraplegias in a group of Polish patients.
|
26671083 |
2015 |
rs1553317028
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Hereditary spastic paraplegia due to SPAST mutations in 151 Dutch patients: new clinical aspects and 27 novel mutations.
|
20562464 |
2010 |
rs1553317028
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.
|
24267886 |
2013 |
rs1553317028
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Hereditary spastic paraplegia in Greece: characterisation of a previously unexplored population using next-generation sequencing.
|
26374131 |
2016 |
rs1553317028
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia.
|
10610178 |
1999 |
rs1553317028
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Normal spastin gene dosage is specifically required for axon regeneration.
|
23122959 |
2012 |
rs1553317028
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia.
|
11309678 |
2001 |