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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease leukoplakia
Comorbidity C0014804|erythromelalgia
Sentences 1
PubMedID- 25886873 The p.leu673phe (dominant), p.gly568cys (recessive) and p.gln216-gly526del (recessive) mutations lead to atypical os, with nonmutilating ppk and no periorificial keratotic plaques, associated with erythromelalgia [55,56].

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