• Mutation; HGNC; 11998; TP53; Simple; p.Thr125Thr (c.375G>A); ClinVar=VCV000177825; Zygosity=Heterozygous; Note=Impairs TP53 splicing dramatically (PubMed=1467311).
  

PubMed=1467311
Warneford S.G., Witton L.J., Townsend M.L., Rowe P.B., Reddel R.R., Dalla-Pozza L., Symonds G.
Germ-line splicing mutation of the p53 gene in a cancer-prone family.
Cell Growth Differ. 3:839-846(1992)

PubMed=7651392; DOI=10.1128/mcb.15.9.4745; PMCID=PMC230718
Rogan E.M., Bryan T.M., Hukku B., MacLean K., Chang A.C.-M., Moy E.L., Englezou A., Warneford S.G., Dalla-Pozza L., Reddel R.R.
Alterations in p53 and p16INK4 expression and telomere length during spontaneous immortalization of Li-Fraumeni syndrome fibroblasts.
Mol. Cell. Biol. 15:4745-4753(1995)

PubMed=19935656; DOI=10.1038/nbt.1587
Henson J.D., Cao Y., Huschtscha L.I., Chang A.C.-M., Au A.Y.M., Pickett H.A., Reddel R.R.
DNA C-circles are specific and quantifiable markers of alternative-lengthening-of-telomeres activity.
Nat. Biotechnol. 27:1181-1185(2009)