• Mutation; HGNC; 12791; WRN; Simple; p.Gln748Ter (c.2242C>T) (2476C>T); ClinVar=VCV000835212; Zygosity=Homozygous (Coriell=AG03141).
  

CLPUB00387
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Mech. Ageing Dev. 16:1-17(1981)

CLPUB00597
National Institute on Aging
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Telomerase prevents the accelerated cell ageing of Werner syndrome fibroblasts.
Nat. Genet. 24:16-17(2000)

PubMed=10655550; DOI=10.1093/hmg/9.3.403
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The establishment of telomerase-immortalized cell lines representing human chromosome instability syndromes.
Hum. Mol. Genet. 9:403-411(2000)

PubMed=16339323; DOI=10.1093/gerona/60.11.1386
Davis T., Baird D.M., Haughton M.F., Jones C.J., Kipling D.
Prevention of accelerated cell aging in Werner syndrome using a p38 mitogen-activated protein kinase inhibitor.
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PubMed=24749076; DOI=10.1016/j.stemcr.2014.02.006
Cheung H.-H., Liu X.-Z., Canterel-Thouennon L., Li L., Edmonson C., Rennert O.M.
Telomerase protects Werner syndrome lineage-specific stem cells from premature aging.
Stem Cell Reports 2:534-546(2014)