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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease xeroderma pigmentosum
Comorbidity C0025202|melanomas
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PubMedID- 25763354 Showed that more than 50% of the melanomas from patients with xeroderma pigmentosum display pten mutations, typically related to ultraviolet radiation exposure, highlighting the link between dna-damage and pten mutations in this disease (51).

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