Variant: rs121913023 

    present in Gene: ERCC2
    present in Chromosome: 19
    Position on Chromosome: 45352511
    Alleles of this Variant: C/T

rs121913023 in ERCC2 gene and Cerebrooculofacioskeletal Syndrome 2 PMID 11443545 2001 Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy.

rs121913023 in ERCC2 gene and Xeroderma Pigmentosum, Complementation Group D PMID 10447254 1999 A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy.

PMID 7825573 1995 Molecular and cellular analysis of the DNA repair defect in a patient in xeroderma pigmentosum complementation group D who has the clinical features of xeroderma pigmentosum and Cockayne syndrome.

PMID 7849702 1994 Structural and mutational analysis of the xeroderma pigmentosum group D (XPD) gene.

PMID 7585650 1995 Defects in the DNA repair and transcription gene ERCC2 in the cancer-prone disorder xeroderma pigmentosum group D.

PMID 15494306 2004 Selective regulation of vitamin D receptor-responsive genes by TFIIH.

PMID 11709541 2001 Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene.

PMID 9101292 1997 Mutations in the XPD gene leading to xeroderma pigmentosum symptoms.