rs1555240376
|
|
Multiple congenital anomalies
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.
|
24267886 |
2013 |
rs1555240376
|
|
Multiple congenital anomalies
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Coupling clinical exome sequencing with functional characterization studies to diagnose a patient with familial Mediterranean fever and MED13L haploinsufficiency syndromes.
|
28588821 |
2017 |
rs1555240376
|
|
Multiple congenital anomalies
|
T |
0.700 |
CausalMutation
|
CLINVAR |
De novo mutations in moderate or severe intellectual disability.
|
25356899 |
2014 |
rs1555240376
|
|
Multiple congenital anomalies
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability.
|
23403903 |
2013 |
rs1555240376
|
|
Multiple congenital anomalies
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.
|
25167861 |
2014 |
rs1555240376
|
|
Multiple congenital anomalies
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Further confirmation of the MED13L haploinsufficiency syndrome.
|
24781760 |
2015 |
rs1555240376
|
|
Multiple congenital anomalies
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Genome sequencing identifies major causes of severe intellectual disability.
|
24896178 |
2014 |
rs1555240376
|
|
Multiple congenital anomalies
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation.
|
28645799 |
2017 |
rs1555240376
|
|
Multiple congenital anomalies
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Impaired development of neural-crest cell-derived organs and intellectual disability caused by MED13L haploinsufficiency.
|
25137640 |
2014 |
rs1555240376
|
|
Multiple congenital anomalies
|
T |
0.700 |
CausalMutation
|
CLINVAR |
MED13L haploinsufficiency syndrome: A de novo frameshift and recurrent intragenic deletions due to parental mosaicism.
|
28371282 |
2017 |
rs1555240376
|
|
Multiple congenital anomalies
|
T |
0.700 |
CausalMutation
|
CLINVAR |
MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence.
|
29159987 |
2018 |
rs1555240376
|
|
Multiple congenital anomalies
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Missense mutations and gene interruption in PROSIT240, a novel TRAP240-like gene, in patients with congenital heart defect (transposition of the great arteries).
|
14638541 |
2003 |
rs1555240376
|
|
Multiple congenital anomalies
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome.
|
25712080 |
2015 |
rs1555240376
|
|
Multiple congenital anomalies
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Redefining the MED13L syndrome.
|
25758992 |
2015 |
rs1555240376
|
|
Multiple congenital anomalies
|
T |
0.700 |
CausalMutation
|
CLINVAR |
UniProt: the universal protein knowledgebase.
|
27899622 |
2017 |
rs1555240376
|
|
Multiple congenital anomalies
|
T |
0.700 |
CausalMutation
|
CLINVAR |
[Criteria in the evaluation of blood picture for the diagnosis of bovine leukosis].
|
5167861 |
1971 |