Whole Exome Sequencing allows the identification of two novel groups of Xeroderma pigmentosum in Tunisia, XP-D and XP-E: Impact on molecular diagnosis

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Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

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Reliability, Nonsynonymous Snvs, Patient Safety +6

Cancer and neurologic degeneration in xeroderma pigmentosum: long term follow-up characterises the role of DNA repair

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