rs1553259529
|
|
TC |
0.700 |
GeneticVariation |
CLINVAR |
Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene.
|
26310628 |
2015 |
rs1553259529
|
|
TC |
0.700 |
GeneticVariation |
CLINVAR |
Congenital hypomyelinating neuropathy attributable to a de novo p.Asp61Asn mutation of the myelin protein zero gene.
|
23290023 |
2013 |
rs1553259529
|
|
TC |
0.700 |
GeneticVariation |
CLINVAR |
Genetic spectrum of hereditary neuropathies with onset in the first year of life.
|
21840889 |
2011 |
rs1553259529
|
|
TC |
0.700 |
GeneticVariation |
CLINVAR |
Clinical features and molecular modelling of novel MPZ mutations in demyelinating and axonal neuropathies.
|
19293842 |
2009 |
rs1553259529
|
|
TC |
0.700 |
GeneticVariation |
CLINVAR |
Late-onset Charcot-Marie-Tooth type 2 disease with hearing impairment associated with a novel Pro105Thr mutation in the MPZ gene.
|
17663472 |
2007 |
rs1553259529
|
|
TC |
0.700 |
GeneticVariation |
CLINVAR |
Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations.
|
15004559 |
2004 |
rs1553259529
|
|
TC |
0.700 |
GeneticVariation |
CLINVAR |
Late onset Charcot-Marie-Tooth 2 syndrome caused by two novel mutations in the MPZ gene.
|
14638973 |
2003 |
rs1553259529
|
|
TC |
0.700 |
GeneticVariation |
CLINVAR |
Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.
|
11835375 |
2002 |
rs1553259529
|
|
TC |
0.700 |
GeneticVariation |
CLINVAR |
"Charcot-Marie-Tooth neuropathy type 2 and P0 point mutations: two novel amino acid substitutions (Asp61Gly; Tyr119Cys) and a possible ""hotspot"" on Thr124Met."
|
10764043 |
2000 |
rs1553259529
|
|
TC |
0.700 |
GeneticVariation |
CLINVAR |
An axonal form of Charcot-Marie-Tooth disease showing distinctive features in association with mutations in the peripheral myelin protein zero gene (Thr124Met or Asp75Val).
|
11080237 |
2000 |
rs1553259529
|
|
TC |
0.700 |
GeneticVariation |
CLINVAR |
The Roussy-Lévy family: from the original description to the gene.
|
10553995 |
1999 |
rs1553259529
|
|
TC |
0.700 |
GeneticVariation |
CLINVAR |
Novel mutation in the myelin protein zero gene in a family with intermediate hereditary motor and sensory neuropathy.
|
10406984 |
1999 |
rs1553259529
|
|
TC |
0.700 |
GeneticVariation |
CLINVAR |
The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype.
|
10071056 |
1999 |
rs1553259529
|
|
TC |
0.700 |
GeneticVariation |
CLINVAR |
Charcot-Marie-Tooth disease type 2 associated with mutation of the myelin protein zero gene.
|
9595994 |
1998 |