Condition: Transposition of the Great Arteries, Dextro-Looped 1
rs121918333
in
MED13L
gene and
Transposition of the Great Arteries, Dextro-Looped 1
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 27824329
2016 De novo genic mutations among a Chinese autism spectrum disorder cohort.
PMID 23403903
2013 Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability.