|
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C
|
|
0.710 |
CausalMutation
|
CLINVAR |
Clinico-Electrophysiological and Genetic Overlaps and Magnetic Resonance Imaging Findings in Charcot-Marie- Tooth Disease: A Pilot Study from Western India.
|
29184351 |
2019 |
|
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C
|
|
0.710 |
CausalMutation
|
CLINVAR |
Clinical and mutational spectrum of Japanese patients with recessive variants in SH3TC2.
|
29321516 |
2018 |
|
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C
|
|
0.710 |
CausalMutation
|
CLINVAR |
Assessment of Targeted Next-Generation Sequencing as a Tool for the Diagnosis of Charcot-Marie-Tooth Disease and Hereditary Motor Neuropathy.
|
26752306 |
2016 |
|
Charcot-Marie-Tooth disease type 4
|
|
0.710 |
CausalMutation
|
CLINVAR |
Screening for SH3TC2 gene mutations in a series of demyelinating recessive Charcot-Marie-Tooth disease (CMT4).
|
27231023 |
2016 |
|
Charcot-Marie-Tooth disease type 4
|
|
0.710 |
CausalMutation
|
CLINVAR |
Assessment of Targeted Next-Generation Sequencing as a Tool for the Diagnosis of Charcot-Marie-Tooth Disease and Hereditary Motor Neuropathy.
|
26752306 |
2016 |
|
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C
|
|
0.710 |
CausalMutation
|
CLINVAR |
Screening for SH3TC2 gene mutations in a series of demyelinating recessive Charcot-Marie-Tooth disease (CMT4).
|
27231023 |
2016 |
|
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C
|
|
0.710 |
CausalMutation
|
CLINVAR |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
|
25525159 |
2015 |
|
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C
|
|
0.710 |
CausalMutation
|
CLINVAR |
Genetics of the Charcot-Marie-Tooth disease in the Spanish Gypsy population: the hereditary motor and sensory neuropathy-Russe in depth.
|
22978647 |
2013 |
|
Charcot-Marie-Tooth disease type 4
|
|
0.710 |
CausalMutation
|
CLINVAR |
Genetics of the Charcot-Marie-Tooth disease in the Spanish Gypsy population: the hereditary motor and sensory neuropathy-Russe in depth.
|
22978647 |
2013 |
|
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C
|
|
0.710 |
CausalMutation
|
CLINVAR |
The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot-Marie-Tooth disease type 4.
|
17470135 |
2007 |
|
Charcot-Marie-Tooth disease type 4
|
|
0.710 |
GeneticVariation
|
BEFREE |
The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot-Marie-Tooth disease type 4.
|
17470135 |
2007 |
|
Charcot-Marie-Tooth disease type 4
|
|
0.710 |
CausalMutation
|
CLINVAR |
The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot-Marie-Tooth disease type 4.
|
17470135 |
2007 |
|
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C
|
|
0.710 |
GeneticVariation
|
BEFREE |
Clinical spectrum of CMT4C disease in patients homozygous for the p.Arg1109X mutation in SH3TC2.
|
16806930 |
2006 |
|
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C
|
|
0.710 |
CausalMutation
|
CLINVAR |
Clinical spectrum of CMT4C disease in patients homozygous for the p.Arg1109X mutation in SH3TC2.
|
16806930 |
2006 |
|
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C
|
|
0.710 |
CausalMutation
|
CLINVAR |
A novel Gypsy founder mutation, p.Arg1109X in the CMT4C gene, causes variable peripheral neuropathy phenotypes.
|
16326826 |
2005 |
|
Charcot-Marie-Tooth disease type 4
|
|
0.710 |
CausalMutation
|
CLINVAR |
A novel Gypsy founder mutation, p.Arg1109X in the CMT4C gene, causes variable peripheral neuropathy phenotypes.
|
16326826 |
2005 |
|
Charcot-Marie-Tooth Disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
Four private mutations responsible for three forms demyelinating of Charcot-Marie-Tooth (CMT) or hereditary motor and sensory neuropathy (HMSN) have been associated with the Gypsy population: the NDRG1 p.R148X in CMT type 4D (CMT4D/HMSN-Lom); p.C737_P738delinsX and p.R1109X mutations in the SH3TC2 gene (CMT4C); and a G>C change in a novel alternative untranslated exon in the HK1 gene causative of CMT4G (CMT4G/HMSN-Russe).
|
22978647 |
2013 |
|
Hereditary Motor and Sensory Neuropathies
|
|
0.010 |
GeneticVariation
|
BEFREE |
Four private mutations responsible for three forms demyelinating of Charcot-Marie-Tooth (CMT) or hereditary motor and sensory neuropathy (HMSN) have been associated with the Gypsy population: the NDRG1 p.R148X in CMT type 4D (CMT4D/HMSN-Lom); p.C737_P738delinsX and p.R1109X mutations in the SH3TC2 gene (CMT4C); and a G>C change in a novel alternative untranslated exon in the HK1 gene causative of CMT4G (CMT4G/HMSN-Russe).
|
22978647 |
2013 |