Assessment of association between variants and haplotypes of the remaining TBX1 gene and manifestations of congenital heart defects in 22q11.2 deletion patients.
Rauch
A
A
Devriendt
K
K
Koch
A
A
Rauch
R
R
Gewillig
M
M
Kraus
C
C
Weyand
M
M
Singer
H
H
Reis
A
A
Hofbeck
M
M
D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006330:Heart Defects, Congenital / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D015810:Linkage Disequilibrium; D009154:Mutation; D020641:Polymorphism, Single Nucleotide; D020825:T-Box Domain Proteins / Q000235:genetics*
D020825:T-Box Domain Proteins; C108625:TBX1 protein, human