Entrez Id: |
4703 |
Gene Symbol: |
NEB |
NEB
|
Muscle hypotonia
|
0.100 |
GeneticVariation |
CLINVAR |
Complete genomic structure of the human nebulin gene and identification of alternatively spliced transcripts.
|
15266303 |
2004 |
Entrez Id: |
4703 |
Gene Symbol: |
NEB |
NEB
|
Muscle hypotonia
|
0.100 |
GeneticVariation |
CLINVAR |
Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy.
|
10051637 |
1999 |
Entrez Id: |
4703 |
Gene Symbol: |
NEB |
NEB
|
Muscle hypotonia
|
0.100 |
GeneticVariation |
CLINVAR |
Mutations in the NEB gene cause fetal akinesia/arthrogryposis multiplex congenita.
|
27933661 |
2017 |
Entrez Id: |
4703 |
Gene Symbol: |
NEB |
NEB
|
Muscle hypotonia
|
0.100 |
GeneticVariation |
CLINVAR |
Distal myopathy caused by homozygous missense mutations in the nebulin gene.
|
17525139 |
2007 |
Entrez Id: |
4703 |
Gene Symbol: |
NEB |
NEB
|
Muscle hypotonia
|
0.100 |
GeneticVariation |
CLINVAR |
Nemaline myopathy in the Ashkenazi Jewish population is caused by a deletion in the nebulin gene.
|
15221447 |
2004 |
Entrez Id: |
4703 |
Gene Symbol: |
NEB |
NEB
|
Muscle hypotonia
|
0.100 |
GeneticVariation |
CLINVAR |
Mutations in the nebulin gene can cause severe congenital nemaline myopathy.
|
12207937 |
2002 |
Entrez Id: |
4703 |
Gene Symbol: |
NEB |
NEB
|
Muscle hypotonia
|
0.100 |
GeneticVariation |
CLINVAR |
Nemaline myopathy caused by mutations in the nebulin gene may present as a distal myopathy.
|
21724397 |
2011 |
Entrez Id: |
4703 |
Gene Symbol: |
NEB |
NEB
|
Muscle hypotonia
|
0.100 |
GeneticVariation |
CLINVAR |
Mutation update: the spectra of nebulin variants and associated myopathies.
|
25205138 |
2014 |
Entrez Id: |
4703 |
Gene Symbol: |
NEB |
NEB
|
Muscle hypotonia
|
0.100 |
GeneticVariation |
CLINVAR |
Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy.
|
16917880 |
2006 |
Entrez Id: |
4703 |
Gene Symbol: |
NEB |
NEB
|
Muscle hypotonia
|
0.100 |
GeneticVariation |
CLINVAR |
Core-rod myopathy caused by mutations in the nebulin gene.
|
19805734 |
2009 |
Entrez Id: |
4703 |
Gene Symbol: |
NEB |
NEB
|
Muscle hypotonia
|
0.100 |
GeneticVariation |
CLINVAR |
Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle alpha-actin.
|
15336686 |
2004 |
Entrez Id: |
4703 |
Gene Symbol: |
NEB |
NEB
|
Muscle hypotonia
|
0.100 |
GeneticVariation |
CLINVAR |
Nebulin cDNAs detect a 25-kilobase transcript in skeletal muscle and localize to human chromosome 2.
|
2838409 |
1988 |