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 (Q24680149)

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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
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    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 (English)
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    Nicolaas G J Jaspers
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    Anja Raams
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    Laura J Niedernhofer
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    Andria Rasile Robinson
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    Wim J Kleijer
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    March 2007
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    80
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    457-66
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    3
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