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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease xeroderma pigmentosum
Comorbidity C0007114|skin cancers
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PubMedID- 20008555 Dna polymerase eta (polh), a y family translesion polymerase, is required for repairing uv-induced dna damage, and loss of polh is responsible for early onset of malignant skin cancers in patients with xeroderma pigmentosum variant (xpv), an autosomal recessive disorder.

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