rs863224069
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Clinical and electrophysiologic features of CMT2A with mutations in the mitofusin 2 gene.
|
16043786 |
2005 |
rs863224069
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
A mutation associated with CMT2A neuropathy causes defects in Fzo1 GTP hydrolysis, ubiquitylation, and protein turnover.
|
19812251 |
2009 |
rs863224069
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations.
|
16835246 |
2006 |
rs863224069
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Charcot-Marie-Tooth disease type 2A: from typical to rare phenotypic and genotypic features.
|
24957169 |
2014 |
rs863224069
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Mitochondrial fusion and function in Charcot-Marie-Tooth type 2A patient fibroblasts with mitofusin 2 mutations.
|
18316077 |
2008 |
rs863224069
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
MFN2 mutations cause severe phenotypes in most patients with CMT2A.
|
21508331 |
2011 |
rs863224069
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Rapidly Progressive Polyneuropathy in a Patient With Monoclonal Gammopathy: A Case Report of POEMS Syndrome and Beyond.
|
27100445 |
2016 |
rs863224069
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
MFN2-related genetic and clinical features in a cohort of Chinese CMT2 patients.
|
26801520 |
2016 |
rs863224069
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Hindlimb gait defects due to motor axon loss and reduced distal muscles in a transgenic mouse model of Charcot-Marie-Tooth type 2A.
|
17959936 |
2008 |
rs863224069
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Genotype-phenotype correlations in Charcot-Marie-Tooth disease type 2 caused by mitofusin 2 mutations.
|
20008656 |
2009 |
rs863224069
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Complementation between mouse Mfn1 and Mfn2 protects mitochondrial fusion defects caused by CMT2A disease mutations.
|
17296794 |
2007 |
rs863224069
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A.
|
15064763 |
2004 |