Identification of a Novel Pathogenic XPC:c.2420+1G>C Variant in a Patient with Xeroderma Pigmentosum

    Estu Ratnangganajati, Mukhlissul Faatih, Zulvikar Syambani Ulhaq
    Studysummary A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.
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