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Q51305766-A1028539-9C72-4E8D-B022-EF220D206B41
Q51305766-A1028539-9C72-4E8D-B022-EF220D206B41
BestRank
Statement
http://www.wikidata.org/entity/statement/Q51305766-A1028539-9C72-4E8D-B022-EF220D206B41
A Turkish trichothiodystrophy patient with homozygous XPD mutation and genotype-phenotype relationship.
P2860
Q51305766-A1028539-9C72-4E8D-B022-EF220D206B41
BestRank
Statement
http://www.wikidata.org/entity/statement/Q51305766-A1028539-9C72-4E8D-B022-EF220D206B41
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wasDerivedFrom
7ef09b012e7841bf85650dbfb7a8cf2959ee9589
P2860
First reported patient with human ERCC1 deficiency has cerebro-oculo-facio-skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure