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Q42510034-0B8FA285-9F1F-4049-AEDF-2392C33B91FB
Q42510034-0B8FA285-9F1F-4049-AEDF-2392C33B91FB
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http://www.wikidata.org/entity/statement/Q42510034-0B8FA285-9F1F-4049-AEDF-2392C33B91FB
A novel XPD mutation in a compound heterozygote; the mutation in the second allele is present in three homozygous patients with mild sun sensitivity.
P2860
Q42510034-0B8FA285-9F1F-4049-AEDF-2392C33B91FB
BestRank
Statement
http://www.wikidata.org/entity/statement/Q42510034-0B8FA285-9F1F-4049-AEDF-2392C33B91FB
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1465d656e8d1318af14f9f0e61b532929c997930
P2860
Persistence of repair proteins at unrepaired DNA damage distinguishes diseases with ERCC2 (XPD) mutations: cancer-prone xeroderma pigmentosum vs. non-cancer-prone trichothiodystrophy.