Condition: MYOPATHY, DISTAL, 4
rs1114167361
in
FLNC
gene and
MYOPATHY, DISTAL, 4
PMID 21520333
2011 LOVD v.2.0: the next generation in gene variant databases.
PMID 26436962
2015 Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned.
PMID 27908349
2016 Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies.
PMID 21620354
2011 Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy.
PMID 25633252
2014 Prioritizing causal disease genes using unbiased genomic features.
rs1554401581
in
FLNC;FLNC-AS1
gene and
MYOPATHY, DISTAL, 4
PMID 28008423
2016
FLNC
Gene Splice Mutations Cause Dilated Cardiomyopathy.
PMID 27908349
2016 Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies.