rs1060502211
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Gender-specific differences in major cardiac events and mortality in lamin A/C mutation carriers.
|
23183350 |
2013 |
rs1060502214
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1060502215
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Specific phosphorylation of Ser458 of A-type lamins in LMNA-associated myopathy patients.
|
20980393 |
2010 |
rs11575937
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
The role of LMNA in adipose: a novel mouse model of lipodystrophy based on the Dunnigan-type familial partial lipodystrophy mutation.
|
19201734 |
2009 |
rs11575937
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Homozygous lamin A/C familial lipodystrophy R482Q mutation in autosomal recessive Emery Dreifuss muscular dystrophy.
|
23313286 |
2013 |
rs11575937
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
LMNA mutations, skeletal muscle lipid metabolism, and insulin resistance.
|
20130076 |
2010 |
rs11575937
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy.
|
10587585 |
2000 |
rs121912496
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Cellular microenvironments reveal defective mechanosensing responses and elevated YAP signaling in LMNA-mutated muscle precursors.
|
24806962 |
2014 |
rs121912496
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Congenital muscular dystrophy with dropped head linked to the LMNA gene in a Brazilian cohort.
|
24508248 |
2014 |
rs121912496
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
De novo LMNA mutations cause a new form of congenital muscular dystrophy.
|
18551513 |
2008 |
rs121912496
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Phenotypic intermediate forms overlapping to Emery-Dreifuss and limb girdle muscular dystrophies caused by lamin A/C gene mutations.
|
24656463 |
2014 |
rs121912496
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
"Two children with ""dropped head"" syndrome due to lamin A/C mutations."
|
20886652 |
2010 |
rs121912496
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations.
|
20848652 |
2011 |
rs121912496
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Inflammatory changes in infantile-onset LMNA-associated myopathy.
|
21632249 |
2011 |
rs121912496
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Phenotype-Genotype Analysis of Chinese Patients with Early-Onset LMNA-Related Muscular Dystrophy.
|
26098624 |
2015 |
rs1228406418
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Infantile-onset LMNA-associated Muscular Dystrophy Mimicking Juvenile Idiopathic Inflammatory Myopathy.
|
26034236 |
2015 |
rs1228406418
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Importance and challenge of making an early diagnosis in LMNA-related muscular dystrophy.
|
22491857 |
2012 |
rs1228406418
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Dropped head congenital muscular dystrophy caused by de novo mutations in LMNA.
|
27876398 |
2017 |
rs1228406418
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Phenotype-Genotype Analysis of Chinese Patients with Early-Onset LMNA-Related Muscular Dystrophy.
|
26098624 |
2015 |
rs1340894696
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Phenotype-Genotype Analysis of Chinese Patients with Early-Onset LMNA-Related Muscular Dystrophy.
|
26098624 |
2015 |
rs150840924
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Progeroid syndrome with scleroderma-like skin changes associated with homozygous R435C LMNA mutation.
|
19842191 |
2009 |
rs150840924
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Autosomal recessive LMNA mutation causing restrictive dermopathy.
|
20662858 |
2010 |
rs150840924
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Systematic identification of pathological lamin A interactors.
|
24623722 |
2014 |
rs150840924
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes.
|
14684700 |
2003 |
rs150840924
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Progeroid laminopathy with restrictive dermopathy-like features caused by an isodisomic LMNA mutation p.R435C.
|
23804595 |
2013 |