Variant: rs1555239936 

    present in Gene: MED13L
    present in Chromosome: 12
    Position on Chromosome: 115963489
    Alleles of this Variant: G/A

rs1555239936 in MED13L gene and Muscle hypotonia PMID 27899622 2017 UniProt: the universal protein knowledgebase.

PMID 28588821 2017 Coupling clinical exome sequencing with functional characterization studies to diagnose a patient with familial Mediterranean fever and MED13L haploinsufficiency syndromes.

PMID 29159987 2018 MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence.

PMID 5167861 1971 [Criteria in the evaluation of blood picture for the diagnosis of bovine leukosis].

PMID 25167861 2014 Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.

PMID 24896178 2014 Genome sequencing identifies major causes of severe intellectual disability.

PMID 24781760 2015 Further confirmation of the MED13L haploinsufficiency syndrome.

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 25758992 2015 Redefining the MED13L syndrome.

PMID 25137640 2014 Impaired development of neural-crest cell-derived organs and intellectual disability caused by MED13L haploinsufficiency.

PMID 28645799 2017 Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation.

PMID 25712080 2015 Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome.

PMID 14638541 2003 Missense mutations and gene interruption in PROSIT240, a novel TRAP240-like gene, in patients with congenital heart defect (transposition of the great arteries).

PMID 28371282 2017 MED13L haploinsufficiency syndrome: A de novo frameshift and recurrent intragenic deletions due to parental mosaicism.

PMID 23403903 2013 Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability.

PMID 25356899 2014 De novo mutations in moderate or severe intellectual disability.