rs587777429
×
Entrez Id:
10382
Gene Symbol:
TUBB4A
TUBB4A
Movement Disorders
A
0.700
CausalMutation
CLINVAR
[A report of atypical hypomyelinating leukodystrophy with atrophy of the basal ganglia and cerebellum caused by a de novo mutation in tubulin beta 4A (TUBB4A ) gene and literature review].
28592043
2017
rs587777429
×
Entrez Id:
10382
Gene Symbol:
TUBB4A
TUBB4A
Muscle hypotonia
A
0.700
CausalMutation
CLINVAR
Screening study of TUBB4A in isolated dystonia.
28655586
2017
rs587777429
×
Entrez Id:
10382
Gene Symbol:
TUBB4A
TUBB4A
Muscle hypotonia
A
0.700
CausalMutation
CLINVAR
[A report of atypical hypomyelinating leukodystrophy with atrophy of the basal ganglia and cerebellum caused by a de novo mutation in tubulin beta 4A (TUBB4A ) gene and literature review].
28592043
2017
rs587777429
×
Entrez Id:
10382
Gene Symbol:
TUBB4A
TUBB4A
Movement Disorders
A
0.700
CausalMutation
CLINVAR
Screening study of TUBB4A in isolated dystonia.
28655586
2017
rs587777429
×
Entrez Id:
10382
Gene Symbol:
TUBB4A
TUBB4A
Movement Disorders
A
0.700
CausalMutation
CLINVAR
TUBB4A-related hypomyelinating leukodystrophy: New insights from a series of 12 patients.
26643067
2016
rs587777429
×
Entrez Id:
10382
Gene Symbol:
TUBB4A
TUBB4A
Muscle hypotonia
A
0.700
CausalMutation
CLINVAR
TUBB4A-related hypomyelinating leukodystrophy: New insights from a series of 12 patients.
26643067
2016
rs587777429
×
Entrez Id:
10382
Gene Symbol:
TUBB4A
TUBB4A
Movement Disorders
A
0.700
CausalMutation
CLINVAR
Dystonia-Causing Mutations as a Contribution to the Etiology of Spasmodic Dysphonia.
27188707
2016
rs587777429
×
Entrez Id:
10382
Gene Symbol:
TUBB4A
TUBB4A
Muscle hypotonia
A
0.700
CausalMutation
CLINVAR
Dystonia-Causing Mutations as a Contribution to the Etiology of Spasmodic Dysphonia.
27188707
2016
rs587777429
×
Entrez Id:
10382
Gene Symbol:
TUBB4A
TUBB4A
Movement Disorders
A
0.700
CausalMutation
CLINVAR
A de novo TUBB4A mutation in a patient with hypomyelination mimicking Pelizaeus-Merzbacher disease.
24974158
2015
rs587777429
×
Entrez Id:
10382
Gene Symbol:
TUBB4A
TUBB4A
Muscle hypotonia
A
0.700
CausalMutation
CLINVAR
A de novo TUBB4A mutation in a patient with hypomyelination mimicking Pelizaeus-Merzbacher disease.
24974158
2015
rs587777429
×
Entrez Id:
10382
Gene Symbol:
TUBB4A
TUBB4A
Movement Disorders
A
0.700
CausalMutation
CLINVAR
TUBB4A novel mutation reinforces the genotype-phenotype correlation of hypomyelination with atrophy of the basal ganglia and cerebellum.
25168210
2015
rs587777429
×
Entrez Id:
10382
Gene Symbol:
TUBB4A
TUBB4A
Muscle hypotonia
A
0.700
CausalMutation
CLINVAR
TUBB4A novel mutation reinforces the genotype-phenotype correlation of hypomyelination with atrophy of the basal ganglia and cerebellum.
25168210
2015
rs587777429
×
Entrez Id:
10382
Gene Symbol:
TUBB4A
TUBB4A
Muscle hypotonia
A
0.700
CausalMutation
CLINVAR
Large-scale TUBB4A mutational screening in isolated dystonia and controls.
26318963
2015
rs587777429
×
Entrez Id:
10382
Gene Symbol:
TUBB4A
TUBB4A
Movement Disorders
A
0.700
CausalMutation
CLINVAR
H-ABC syndrome and DYT4: Variable expressivity or pleiotropy of TUBB4 mutations?
25545912
2015
rs587777429
×
Entrez Id:
10382
Gene Symbol:
TUBB4A
TUBB4A
Muscle hypotonia
A
0.700
CausalMutation
CLINVAR
H-ABC syndrome and DYT4: Variable expressivity or pleiotropy of TUBB4 mutations?
25545912
2015
rs587777429
×
Entrez Id:
10382
Gene Symbol:
TUBB4A
TUBB4A
Movement Disorders
A
0.700
CausalMutation
CLINVAR
Large-scale TUBB4A mutational screening in isolated dystonia and controls.
26318963
2015
rs587777429
×
Entrez Id:
10382
Gene Symbol:
TUBB4A
TUBB4A
Movement Disorders
A
0.700
CausalMutation
CLINVAR
Novel TUBB4A mutations and expansion of the neuroimaging phenotype of hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC).
24706558
2014
rs587777429
×
Entrez Id:
10382
Gene Symbol:
TUBB4A
TUBB4A
Movement Disorders
A
0.700
CausalMutation
CLINVAR
Clinical exome sequencing identifies a novel TUBB4A mutation in a child with static hypomyelinating leukodystrophy.
24742798
2014
rs587777429
×
Entrez Id:
10382
Gene Symbol:
TUBB4A
TUBB4A
Movement Disorders
A
0.700
CausalMutation
CLINVAR
Expanding the phenotypic spectrum of TUBB4A-associated hypomyelinating leukoencephalopathies.
24850488
2014
rs587777429
×
Entrez Id:
10382
Gene Symbol:
TUBB4A
TUBB4A
Muscle hypotonia
A
0.700
CausalMutation
CLINVAR
Novel TUBB4A mutations and expansion of the neuroimaging phenotype of hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC).
24706558
2014
rs587777429
×
Entrez Id:
10382
Gene Symbol:
TUBB4A
TUBB4A
Movement Disorders
A
0.700
CausalMutation
CLINVAR
TUBB4A de novo mutations cause isolated hypomyelination.
25085639
2014
rs587777429
×
Entrez Id:
10382
Gene Symbol:
TUBB4A
TUBB4A
Leukodystrophy, Hypomyelinating, 6
A
0.700
CausalMutation
CLINVAR
Clinical exome sequencing identifies a novel TUBB4A mutation in a child with static hypomyelinating leukodystrophy.
24742798
2014
rs587777429
×
Entrez Id:
10382
Gene Symbol:
TUBB4A
TUBB4A
Muscle hypotonia
A
0.700
CausalMutation
CLINVAR
Expansion of the spectrum of TUBB4A-related disorders: a new phenotype associated with a novel mutation in the TUBB4A gene.
24526230
2014
rs587777429
×
Entrez Id:
10382
Gene Symbol:
TUBB4A
TUBB4A
Muscle hypotonia
A
0.700
CausalMutation
CLINVAR
Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation.
24785942
2014
rs587777429
×
Entrez Id:
10382
Gene Symbol:
TUBB4A
TUBB4A
Movement Disorders
A
0.700
CausalMutation
CLINVAR
Expansion of the spectrum of TUBB4A-related disorders: a new phenotype associated with a novel mutation in the TUBB4A gene.
24526230
2014