Mental Retardation, X-Linked 1
|
0.720 |
GeneticVariation
|
disease |
CLINVAR |
Synaptic functions of the IQSEC family of ADP-ribosylation factor guanine nucleotide exchange factors.
|
27369185 |
2017 |
Mental Retardation, X-Linked 1
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
The role of IQSEC2 in syndromic intellectual disability: Narrowing the diagnostic odyssey.
|
28815955 |
2017 |
Mental Retardation, X-Linked 1
|
0.720 |
GeneticVariation
|
disease |
CLINVAR |
Bidirectional regulation of synaptic transmission by BRAG1/IQSEC2 and its requirement in long-term depression.
|
27009485 |
2016 |
Mental Retardation, X-Linked 1
|
0.720 |
GeneticVariation
|
disease |
CLINVAR |
The molecular and phenotypic spectrum of IQSEC2-related epilepsy.
|
27665735 |
2016 |
Mental Retardation, X-Linked 1
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
A novel splicing mutation in the IQSEC2 gene that modulates the phenotype severity in a family with intellectual disability.
|
26733290 |
2016 |
Mental Retardation, X-Linked 1
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients.
|
27652284 |
2016 |
Mental Retardation, X-Linked 1
|
0.720 |
GeneticVariation
|
disease |
CLINVAR |
Novel Missense Mutation A789V in IQSEC2 Underlies X-Linked Intellectual Disability in the MRX78 Family.
|
26793055 |
2015 |
Mental Retardation, X-Linked 1
|
0.720 |
GeneticVariation
|
disease |
UNIPROT |
Novel Missense Mutation A789V in IQSEC2 Underlies X-Linked Intellectual Disability in the MRX78 Family.
|
26793055 |
2015 |
Mental Retardation, X-Linked 1
|
0.720 |
Biomarker
|
disease |
CTD_human |
Novel Missense Mutation A789V in IQSEC2 Underlies X-Linked Intellectual Disability in the MRX78 Family.
|
26793055 |
2015 |
Mental Retardation, X-Linked 1
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability.
|
23674175 |
2014 |
Mental Retardation, X-Linked 1
|
0.720 |
GermlineCausalMutation
|
disease |
ORPHANET |
Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability.
|
20473311 |
2010 |
Mental Retardation, X-Linked 1
|
0.720 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability.
|
20473311 |
2010 |
Mental Retardation, X-Linked 1
|
0.720 |
GeneticVariation
|
disease |
CLINVAR |
Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability.
|
20473311 |
2010 |
Mental Retardation, X-Linked 1
|
0.720 |
GeneticVariation
|
disease |
CLINVAR |
Subtle functional defects in the Arf-specific guanine nucleotide exchange factor IQSEC2 cause non-syndromic X-linked intellectual disability.
|
21686261 |
2010 |
Mental Retardation, X-Linked 1
|
0.720 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability.
|
20473311 |
2010 |
Mental Retardation, X-Linked 1
|
0.720 |
Biomarker
|
disease |
BEFREE |
Non-specific mental retardations (MRX) are given unique symbols for each family (MRX1, MRX2, MRX3 ...).
|
1605216 |
1992 |
Mental Retardation, X-Linked 1
|
0.720 |
Biomarker
|
disease |
BEFREE |
Gene localization was determined by linkage analysis in 5 families with non-specific X-linked mental retardation (MRX) and were MRX1, Xp11.4-q21.31; MRX10, Xp21.3-p11.4; MRX11, Xp21.3-p11.22; MRX12, Xp21.3-q21.1; and MRX13, Xp22.3-q21.22.
|
1605217 |
1992 |