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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease werner syndrome
Comorbidity C0040188|tic disorders
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PubMedID- 24688722 Mutations in three human recq helicase homologs wrn, blm and recq4 are related to rare genetic disorders of werner syndrome, bloom syndrome, and rothmund-thomson/ rapadilino/baller-gerold syndrome, respectively, all characterized by chromosomal instability and predisposition to cancer [6, 7].

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