present in Gene: XPA
present in Chromosome: 9
Position on Chromosome: 97675579
Alleles of this Variant: G/A
rs104894132 in
XPA gene and
Xeroderma Pigmentosum
PMID 29208038 2017 Genetic investigation of XPA gene: high frequency of the c.682C>T mutation in Moroccan XP patients with moderate clinical profile.
PMID 20534089 2010 Genetic homogeneity of mutational spectrum of group-A xeroderma pigmentosum in Tunisian patients.
rs104894132 in
XPA gene and
Xeroderma pigmentosum, group A
PMID 20199544 2010 Identification of a primarily neurological phenotypic expression of xeroderma pigmentosum complementation group A in a Tunisian family.
PMID 20054342 2010 Among 7/8 XP-A patients, we found the previously reported nonsense homozygous XPA mutation (p.Arg228X).
PMID 1372102 1992 Three nonsense mutations responsible for group A xeroderma pigmentosum.
PMID 20534089 2010 Genetic homogeneity of mutational spectrum of group-A xeroderma pigmentosum in Tunisian patients.