×
Entrez Id:
23389
Gene Symbol:
MED13L
MED13L
0.110
GeneticVariation
disease
CLINVAR
MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence.
29159987
2018
×
Entrez Id:
23389
Gene Symbol:
MED13L
MED13L
0.110
CausalMutation
disease
CLINVAR
MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence.
29159987
2018
×
Entrez Id:
23389
Gene Symbol:
MED13L
MED13L
0.110
CausalMutation
disease
CLINVAR
Coupling clinical exome sequencing with functional characterization studies to diagnose a patient with familial Mediterranean fever and MED13L haploinsufficiency syndromes.
28588821
2017
×
Entrez Id:
23389
Gene Symbol:
MED13L
MED13L
0.110
GeneticVariation
disease
CLINVAR
Coupling clinical exome sequencing with functional characterization studies to diagnose a patient with familial Mediterranean fever and MED13L haploinsufficiency syndromes.
28588821
2017
×
Entrez Id:
23389
Gene Symbol:
MED13L
MED13L
0.110
GeneticVariation
disease
CLINVAR
MED13L haploinsufficiency syndrome: A de novo frameshift and recurrent intragenic deletions due to parental mosaicism.
28371282
2017
×
Entrez Id:
23389
Gene Symbol:
MED13L
MED13L
0.110
Biomarker
disease
BEFREE
MED13L haploinsufficiency syndrome is a clinical condition manifesting intellectual disability and developmental delay in association with various complications including congenital heart defects and dysmorphic features .
28371282
2017
×
Entrez Id:
23389
Gene Symbol:
MED13L
MED13L
0.110
CausalMutation
disease
CLINVAR
MED13L haploinsufficiency syndrome: A de novo frameshift and recurrent intragenic deletions due to parental mosaicism.
28371282
2017
×
Entrez Id:
23389
Gene Symbol:
MED13L
MED13L
0.110
CausalMutation
disease
CLINVAR
UniProt: the universal protein knowledgebase.
27899622
2017
×
Entrez Id:
23389
Gene Symbol:
MED13L
MED13L
0.110
GeneticVariation
disease
CLINVAR
Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation.
28645799
2017
×
Entrez Id:
23389
Gene Symbol:
MED13L
MED13L
0.110
GeneticVariation
disease
CLINVAR
UniProt: the universal protein knowledgebase.
27899622
2017
×
Entrez Id:
23389
Gene Symbol:
MED13L
MED13L
0.110
CausalMutation
disease
CLINVAR
Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation.
28645799
2017
×
Entrez Id:
23389
Gene Symbol:
MED13L
MED13L
0.110
CausalMutation
disease
CLINVAR
Redefining the MED13L syndrome.
25758992
2015
×
Entrez Id:
23389
Gene Symbol:
MED13L
MED13L
0.110
GeneticVariation
disease
CLINVAR
Redefining the MED13L syndrome.
25758992
2015
×
Entrez Id:
23389
Gene Symbol:
MED13L
MED13L
0.110
GeneticVariation
disease
CLINVAR
Further confirmation of the MED13L haploinsufficiency syndrome.
24781760
2015
×
Entrez Id:
23389
Gene Symbol:
MED13L
MED13L
0.110
GeneticVariation
disease
CLINVAR
Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome.
25712080
2015
×
Entrez Id:
23389
Gene Symbol:
MED13L
MED13L
0.110
CausalMutation
disease
CLINVAR
Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome.
25712080
2015
×
Entrez Id:
23389
Gene Symbol:
MED13L
MED13L
0.110
CausalMutation
disease
CLINVAR
Further confirmation of the MED13L haploinsufficiency syndrome.
24781760
2015
×
Entrez Id:
23389
Gene Symbol:
MED13L
MED13L
0.110
CausalMutation
disease
CLINVAR
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.
25167861
2014
×
Entrez Id:
23389
Gene Symbol:
MED13L
MED13L
0.110
GeneticVariation
disease
CLINVAR
Impaired development of neural-crest cell-derived organs and intellectual disability caused by MED13L haploinsufficiency.
25137640
2014
×
Entrez Id:
23389
Gene Symbol:
MED13L
MED13L
0.110
GeneticVariation
disease
CLINVAR
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.
25167861
2014
×
Entrez Id:
23389
Gene Symbol:
MED13L
MED13L
0.110
GeneticVariation
disease
CLINVAR
De novo mutations in moderate or severe intellectual disability.
25356899
2014
×
Entrez Id:
23389
Gene Symbol:
MED13L
MED13L
0.110
CausalMutation
disease
CLINVAR
Impaired development of neural-crest cell-derived organs and intellectual disability caused by MED13L haploinsufficiency.
25137640
2014
×
Entrez Id:
23389
Gene Symbol:
MED13L
MED13L
0.110
CausalMutation
disease
CLINVAR
Genome sequencing identifies major causes of severe intellectual disability.
24896178
2014
×
Entrez Id:
23389
Gene Symbol:
MED13L
MED13L
0.110
CausalMutation
disease
CLINVAR
De novo mutations in moderate or severe intellectual disability.
25356899
2014
×
Entrez Id:
23389
Gene Symbol:
MED13L
MED13L
0.110
GeneticVariation
disease
CLINVAR
Genome sequencing identifies major causes of severe intellectual disability.
24896178
2014