|
MYOPATHY, DISTAL, 4
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy.
|
26666891 |
2016 |
|
MYOPATHY, DISTAL, 4
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies.
|
27908349 |
2016 |
|
MYOPATHY, DISTAL, 4
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
FLNC Gene Splice Mutations Cause Dilated Cardiomyopathy.
|
28008423 |
2016 |
|
MYOPATHY, DISTAL, 4
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies.
|
27908349 |
2016 |
|
MYOPATHY, DISTAL, 4
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned.
|
26436962 |
2015 |
|
MYOPATHY, DISTAL, 4
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Prioritizing causal disease genes using unbiased genomic features.
|
25633252 |
2014 |
|
MYOPATHY, DISTAL, 4
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
LOVD v.2.0: the next generation in gene variant databases.
|
21520333 |
2011 |
|
MYOPATHY, DISTAL, 4
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy.
|
21620354 |
2011 |
|
MYOPATHY, DISTAL, 4
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy.
|
21620354 |
2011 |
|
MYOPATHY, DISTAL, 4
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A mutation in the dimerization domain of filamin c causes a novel type of autosomal dominant myofibrillar myopathy.
|
15929027 |
2005 |
|
MYOPATHY, DISTAL, 4
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|