|
rs121909079
|
|
A |
0.820 |
CausalMutation |
CLINVAR |
Factors Affecting Phenotype Variability in a Family with CMT2B: Gender and LRSAM1 Genotype.
|
27462242 |
2016 |
|
rs121909078
|
|
|
0.820 |
GeneticVariation |
BEFREE |
Here we developed the first animal model of CMT2B, modelling one of the mutations (L129F) in Drosophila melanogaster.
|
24521780 |
2014 |
|
rs121909079
|
|
|
0.820 |
GeneticVariation |
BEFREE |
Four missense mutations in the late endosomal Rab7 GTPase (L129F, K157N, N161T, and V162M) cause the autosomal dominant peripheral neuropathy Charcot-Marie-Tooth type 2B (CMT2B) disease.
|
23188822 |
2013 |
|
rs121909079
|
|
A |
0.820 |
CausalMutation |
CLINVAR |
Four missense mutations in the late endosomal Rab7 GTPase (L129F, K157N, N161T, and V162M) cause the autosomal dominant peripheral neuropathy Charcot-Marie-Tooth type 2B (CMT2B) disease.
|
23188822 |
2013 |
|
rs121909079
|
|
A |
0.820 |
CausalMutation |
CLINVAR |
Autonomic nervous system involvement in a new CMT2B family.
|
22971099 |
2012 |
|
rs121909078
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Rab7 mutants associated with Charcot-Marie-Tooth disease exhibit enhanced NGF-stimulated signaling.
|
21151572 |
2010 |
|
rs121909078
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Disease mutations in Rab7 result in unregulated nucleotide exchange and inappropriate activation.
|
20028791 |
2010 |
|
rs121909079
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Disease mutations in Rab7 result in unregulated nucleotide exchange and inappropriate activation.
|
20028791 |
2010 |
|
rs121909079
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Rab7 mutants associated with Charcot-Marie-Tooth disease exhibit enhanced NGF-stimulated signaling.
|
21151572 |
2010 |
|
rs121909078
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Charcot-Marie-Tooth disease due to a de novo mutation of the RAB7 gene.
|
17060578 |
2006 |
|
rs121909079
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Charcot-Marie-Tooth disease due to a de novo mutation of the RAB7 gene.
|
17060578 |
2006 |
|
rs121909078
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
A novel RAB7 mutation associated with ulcero-mutilating neuropathy.
|
15455439 |
2004 |
|
rs121909079
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
A novel RAB7 mutation associated with ulcero-mutilating neuropathy.
|
15455439 |
2004 |
|
rs121909078
|
|
|
0.820 |
GeneticVariation |
BEFREE |
We refined the CMT2B locus to a 2.5-cM region and report two missense mutations (Leu129Phe and Val162Met) in the small GTP-ase late endosomal protein RAB7 which causes the CMT2B phenotype in three extended families and in three patients with a positive family history.
|
12545426 |
2003 |
|
rs121909078
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
We refined the CMT2B locus to a 2.5-cM region and report two missense mutations (Leu129Phe and Val162Met) in the small GTP-ase late endosomal protein RAB7 which causes the CMT2B phenotype in three extended families and in three patients with a positive family history.
|
12545426 |
2003 |
|
rs121909079
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
We refined the CMT2B locus to a 2.5-cM region and report two missense mutations (Leu129Phe and Val162Met) in the small GTP-ase late endosomal protein RAB7 which causes the CMT2B phenotype in three extended families and in three patients with a positive family history.
|
12545426 |
2003 |
|
rs121909079
|
|
|
0.820 |
GeneticVariation |
BEFREE |
We refined the CMT2B locus to a 2.5-cM region and report two missense mutations (Leu129Phe and Val162Met) in the small GTP-ase late endosomal protein RAB7 which causes the CMT2B phenotype in three extended families and in three patients with a positive family history.
|
12545426 |
2003 |
|
rs121909079
|
|
A |
0.820 |
CausalMutation |
CLINVAR |
We refined the CMT2B locus to a 2.5-cM region and report two missense mutations (Leu129Phe and Val162Met) in the small GTP-ase late endosomal protein RAB7 which causes the CMT2B phenotype in three extended families and in three patients with a positive family history.
|
12545426 |
2003 |
|
rs121909078
|
|
T |
0.820 |
CausalMutation |
CLINVAR |
|
|
|
|
rs121909080
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Rab7 mutants associated with Charcot-Marie-Tooth disease exhibit enhanced NGF-stimulated signaling.
|
21151572 |
2010 |
|
rs121909080
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Disease mutations in Rab7 result in unregulated nucleotide exchange and inappropriate activation.
|
20028791 |
2010 |
|
rs121909081
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Disease mutations in Rab7 result in unregulated nucleotide exchange and inappropriate activation.
|
20028791 |
2010 |
|
rs121909081
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Rab7 mutants associated with Charcot-Marie-Tooth disease exhibit enhanced NGF-stimulated signaling.
|
21151572 |
2010 |
|
rs121909080
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Charcot-Marie-Tooth disease due to a de novo mutation of the RAB7 gene.
|
17060578 |
2006 |
|
rs121909081
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Charcot-Marie-Tooth disease due to a de novo mutation of the RAB7 gene.
|
17060578 |
2006 |