Variant: rs1554015303 

    present in Gene: NIPBL
    present in Chromosome: 5
    Position on Chromosome: 36976342
    Alleles of this Variant: C/T

rs1554015303 in NIPBL gene and Multiple congenital anomalies PMID 25209348 2015 Cornelia de Lange syndrome.

PMID 23263593 2013 Oral muscles are progressively affected in Duchenne muscular dystrophy: implications for dysphagia treatment.

PMID 22740382 2012 Identification of a prenatal profile of Cornelia de Lange syndrome (CdLS): a review of 53 CdLS pregnancies.

PMID 26537453 2015 Cornelia de Lange Syndrome.

PMID 15318302 2004 NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations.