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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease neuropathy, peripheral
Comorbidity C0007959|charcot-marie-tooth disease
Sentences 2
PubMedID- 26143528 Association of the charcot-marie-tooth disease gene arhgef10 with paclitaxel induced peripheral neuropathy in ncctg n08ca (alliance).
PubMedID- 26102530 We quantitatively assessed both the conformational equilibrium and cellular trafficking of 12 variants of the alpha-helical membrane protein peripheral myelin protein 22 (pmp22), the intracellular misfolding of which is known to cause peripheral neuropathies associated with charcot-marie-tooth disease (cmt).

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