×
Entrez Id:
81846
Gene Symbol:
SBF2
SBF2
0.740
Biomarker
disease
BEFREE
An In Vitro Model of Charcot-Marie-Tooth Disease Type 4B2 Provides Insight Into the Roles of MTMR13 and MTMR2 in Schwann Cell Myelination.
30419760
2019
×
Entrez Id:
81846
Gene Symbol:
SBF2
SBF2
0.740
GeneticVariation
disease
BEFREE
Novel SBF2 mutations and clinical spectrum of Charcot-Marie-Tooth neuropathy type 4B2 .
30028002
2018
×
Entrez Id:
81846
Gene Symbol:
SBF2
SBF2
0.740
GeneticVariation
disease
BEFREE
Identification of a novel SBF2 frameshift mutation in charcot-marie-tooth disease type 4B2 using whole-exome sequencing.
25462154
2014
×
Entrez Id:
81846
Gene Symbol:
SBF2
SBF2
0.740
Biomarker
disease
MGD
Loss of the inactive myotubularin-related phosphatase Mtmr13 leads to a Charcot-Marie-Tooth 4B2-like peripheral neuropathy in mice.
18349142
2008
×
Entrez Id:
81846
Gene Symbol:
SBF2
SBF2
0.740
Biomarker
disease
MGD
Mtmr13/Sbf2-deficient mice: an animal model for CMT4B2.
17855448
2007
×
Entrez Id:
81846
Gene Symbol:
SBF2
SBF2
0.740
Biomarker
disease
BEFREE
Loss of MTMR13 function in CMT4B2 patients may lead to alterations in MTMR2 function and subsequent alterations in 3-phosphoinositide signaling.
15998640
2005
×
Entrez Id:
81846
Gene Symbol:
SBF2
SBF2
0.740
Biomarker
disease
GENOMICS_ENGLAND
Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2 /11p15.
12554688
2003
×
Entrez Id:
81846
Gene Symbol:
SBF2
SBF2
0.740
Biomarker
disease
GENOMICS_ENGLAND
Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma.
12687498
2003
×
Entrez Id:
81846
Gene Symbol:
SBF2
SBF2
0.740
Biomarker
disease
GENOMICS_ENGLAND
×
Entrez Id:
81846
Gene Symbol:
SBF2
SBF2
0.740
Biomarker
disease
CTD_human
×
Entrez Id:
8898
Gene Symbol:
MTMR2
MTMR2
0.010
Biomarker
disease
BEFREE
An In Vitro Model of Charcot-Marie-Tooth Disease Type 4B2 Provides Insight Into the Roles of MTMR13 and MTMR2 in Schwann Cell Myelination.
30419760
2019
×
Entrez Id:
4534
Gene Symbol:
MTM1
MTM1
0.010
Biomarker
disease
BEFREE
Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2 /11p15.
12554688
2003