|
rs672601370
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Whole-exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families.
|
28708278 |
2018 |
|
rs672601370
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia.
|
28362824 |
2017 |
|
rs672601370
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Hereditary spastic paraplegia caused by compound heterozygous mutations outside the motor domain of the KIF1A gene.
|
28332297 |
2017 |
|
rs672601370
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Homozygous p.Ser267Phe in SLC10A1 is associated with a new type of hypercholanemia and implications for personalized medicine.
|
28835676 |
2017 |
|
rs672601370
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome.
|
26486474 |
2016 |
|
rs672601370
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Novel De Novo Mutations in KIF1A as a Cause of Hereditary Spastic Paraplegia With Progressive Central Nervous System Involvement.
|
27034427 |
2016 |
|
rs672601370
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Dominant transmission of de novo KIF1A motor domain variant underlying pure spastic paraplegia.
|
25585697 |
2015 |
|
rs672601370
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
De novo KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbance.
|
26354034 |
2015 |
|
rs672601370
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and cerebellar atrophy.
|
25265257 |
2015 |
|
rs672601370
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy.
|
26125038 |
2015 |
|
rs672601370
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Variants in KIF1A gene in dominant and sporadic forms of hereditary spastic paraparesis.
|
26410750 |
2015 |
|
rs672601370
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations.
|
22258533 |
2012 |
|
rs672601370
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis.
|
21487076 |
2011 |
|
rs672601370
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability.
|
21376300 |
2011 |
|
rs672601370
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2.
|
21820098 |
2011 |