Filaminopathy, autosomal dominant
|
0.910 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
De novo mutations in FLNC leading to early-onset restrictive cardiomyopathy and congenital myopathy.
|
29858533 |
2018 |
Filaminopathy, autosomal dominant
|
0.910 |
GeneticVariation
|
disease |
BEFREE |
A novel heterogeneous 15-nucleotide deletion (c.2791_2805del, p.931_935del) in the Ig-like domain 7 of the FLNC gene was found to cause filamin C-related MFM.
|
29866061 |
2018 |
Filaminopathy, autosomal dominant
|
0.910 |
GeneticVariation
|
disease |
CLINVAR |
Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies.
|
27908349 |
2016 |
Filaminopathy, autosomal dominant
|
0.910 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
FLNC Gene Splice Mutations Cause Dilated Cardiomyopathy.
|
28008423 |
2016 |
Filaminopathy, autosomal dominant
|
0.910 |
CausalMutation
|
disease |
CLINVAR |
FLNC Gene Splice Mutations Cause Dilated Cardiomyopathy.
|
28008423 |
2016 |
Filaminopathy, autosomal dominant
|
0.910 |
Biomarker
|
disease |
CLINGEN |
Cardiac arrhythmia and late-onset muscle weakness caused by a myofibrillar myopathy with unusual histopathological features due to a novel missense mutation in FLNC.
|
27633507 |
2016 |
Filaminopathy, autosomal dominant
|
0.910 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy.
|
26666891 |
2016 |
Filaminopathy, autosomal dominant
|
0.910 |
CausalMutation
|
disease |
CLINVAR |
Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies.
|
27908349 |
2016 |
Filaminopathy, autosomal dominant
|
0.910 |
CausalMutation
|
disease |
CLINVAR |
Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned.
|
26436962 |
2015 |
Filaminopathy, autosomal dominant
|
0.910 |
Biomarker
|
disease |
MGD |
Myofibrillar instability exacerbated by acute exercise in filaminopathy.
|
26472074 |
2015 |
Filaminopathy, autosomal dominant
|
0.910 |
Biomarker
|
disease |
CLINGEN |
Myofibrillar instability exacerbated by acute exercise in filaminopathy.
|
26472074 |
2015 |
Filaminopathy, autosomal dominant
|
0.910 |
CausalMutation
|
disease |
CLINVAR |
Prioritizing causal disease genes using unbiased genomic features.
|
25633252 |
2014 |
Filaminopathy, autosomal dominant
|
0.910 |
Biomarker
|
disease |
CLINGEN |
Prioritizing causal disease genes using unbiased genomic features.
|
25633252 |
2014 |
Filaminopathy, autosomal dominant
|
0.910 |
Biomarker
|
disease |
CLINGEN |
Filamin C-related myopathies: pathology and mechanisms.
|
23109048 |
2013 |
Filaminopathy, autosomal dominant
|
0.910 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Novel FLNC mutation in a patient with myofibrillar myopathy in combination with late-onset cerebellar ataxia.
|
22806379 |
2012 |
Filaminopathy, autosomal dominant
|
0.910 |
Biomarker
|
disease |
CLINGEN |
Pathophysiology of protein aggregation and extended phenotyping in filaminopathy.
|
22961544 |
2012 |
Filaminopathy, autosomal dominant
|
0.910 |
CausalMutation
|
disease |
CLINVAR |
LOVD v.2.0: the next generation in gene variant databases.
|
21520333 |
2011 |
Filaminopathy, autosomal dominant
|
0.910 |
Biomarker
|
disease |
CLINGEN |
A novel heterozygous deletion-insertion mutation (2695-2712 del/GTTTGT ins) in exon 18 of the filamin C gene causes filaminopathy in a large Chinese family.
|
20417099 |
2010 |
Filaminopathy, autosomal dominant
|
0.910 |
Biomarker
|
disease |
CLINGEN |
In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy.
|
19050726 |
2009 |
Filaminopathy, autosomal dominant
|
0.910 |
Biomarker
|
disease |
CLINGEN |
Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients.
|
18055494 |
2007 |
Filaminopathy, autosomal dominant
|
0.910 |
Biomarker
|
disease |
CLINGEN |
Loss of FilaminC (FLNc) results in severe defects in myogenesis and myotube structure.
|
16914736 |
2006 |
Filaminopathy, autosomal dominant
|
0.910 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A mutation in the dimerization domain of filamin c causes a novel type of autosomal dominant myofibrillar myopathy.
|
15929027 |
2005 |
Filaminopathy, autosomal dominant
|
0.910 |
GermlineCausalMutation
|
disease |
ORPHANET |
A mutation in the dimerization domain of filamin c causes a novel type of autosomal dominant myofibrillar myopathy.
|
15929027 |
2005 |
Filaminopathy, autosomal dominant
|
0.910 |
Biomarker
|
disease |
CLINGEN |
A mutation in the dimerization domain of filamin c causes a novel type of autosomal dominant myofibrillar myopathy.
|
15929027 |
2005 |
Filaminopathy, autosomal dominant
|
0.910 |
Biomarker
|
disease |
CLINGEN |
Characterization of muscle filamin isoforms suggests a possible role of gamma-filamin/ABP-L in sarcomeric Z-disc formation.
|
10658210 |
2000 |