rs1553255501
|
|
Muscle hypotonia
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations.
|
15236405 |
2004 |
rs1553255501
|
|
Muscle hypotonia
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
Clinical course correlates poorly with muscle pathology in nemaline myopathy.
|
12601110 |
2003 |
rs1553255501
|
|
Muscle hypotonia
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene.
|
11333380 |
2001 |
rs1553255501
|
|
Muscle hypotonia
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
Nemaline myopathy with dilated cardiomyopathy in childhood.
|
23650303 |
2013 |
rs1553255501
|
|
Muscle hypotonia
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
Severe congenital nemaline myopathy with primary pulmonary lymphangiectasia: unusual clinical presentation and review of the literature.
|
25890230 |
2015 |
rs1553255501
|
|
Muscle hypotonia
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
Variable presentation of nemaline myopathy: novel mutation of alpha actin gene.
|
16967490 |
2007 |
rs1553255501
|
|
Muscle hypotonia
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
Review of Cardiac Disease in Nemaline Myopathy.
|
26507755 |
2015 |
rs1553255501
|
|
Muscle hypotonia
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1).
|
19562689 |
2009 |
rs1553255501
|
|
Muscle hypotonia
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
Actin mutations are one cause of congenital fibre type disproportion.
|
15468086 |
2004 |
rs1553255354
|
|
Muscle hypotonia
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations.
|
15236405 |
2004 |
rs1553255354
|
|
Muscle hypotonia
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Severe congenital nemaline myopathy with primary pulmonary lymphangiectasia: unusual clinical presentation and review of the literature.
|
25890230 |
2015 |
rs1553255354
|
|
Muscle hypotonia
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Actin mutations are one cause of congenital fibre type disproportion.
|
15468086 |
2004 |
rs1553255354
|
|
Muscle hypotonia
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Review of Cardiac Disease in Nemaline Myopathy.
|
26507755 |
2015 |
rs1553255354
|
|
Muscle hypotonia
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Variable presentation of nemaline myopathy: novel mutation of alpha actin gene.
|
16967490 |
2007 |
rs1553255354
|
|
Muscle hypotonia
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene.
|
11333380 |
2001 |
rs1553255354
|
|
Muscle hypotonia
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Clinical course correlates poorly with muscle pathology in nemaline myopathy.
|
12601110 |
2003 |
rs1553255354
|
|
Muscle hypotonia
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1).
|
19562689 |
2009 |
rs1553255354
|
|
Muscle hypotonia
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Nemaline myopathy with dilated cardiomyopathy in childhood.
|
23650303 |
2013 |
rs746547282
|
|
Muscle hypotonia
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Role of Gα(olf) in familial and sporadic adult-onset primary dystonia.
|
23449625 |
2013 |
rs746547282
|
|
Muscle hypotonia
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Structure, mechanism, and regulation of soluble adenylyl cyclases - similarities and differences to transmembrane adenylyl cyclases.
|
25193033 |
2014 |
rs746547282
|
|
Muscle hypotonia
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Cloning and expression of an adenylyl cyclase localized to the corpus striatum.
|
8429907 |
1993 |
rs746547282
|
|
Muscle hypotonia
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Localization of D1 and D2 dopamine receptors in brain with subtype-specific antibodies.
|
8415621 |
1993 |
rs746547282
|
|
Muscle hypotonia
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Isolation and characterization of a novel cardiac adenylylcyclase cDNA.
|
1618857 |
1992 |
rs746547282
|
|
Muscle hypotonia
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
ADCY5-related dyskinesia presenting as familial myoclonus-dystonia.
|
28229249 |
2017 |
rs746547282
|
|
Muscle hypotonia
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Treatment of ADCY5-Associated Dystonia, Chorea, and Hyperkinetic Disorders With Deep Brain Stimulation: A Multicenter Case Series.
|
27052971 |
2016 |