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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease wolf hirschhorn syndrome
Symptom C0036572|seizures
Sentences 2
PubMedID- 20197279 We have previously identified the yeast mdm38 and its human homologue letm1, the candidate gene for seizures in wolf-hirschhorn syndrome, as essential components of the khe.
PubMedID- 20026556 A drosophila mutant of letm1, a candidate gene for seizures in wolf-hirschhorn syndrome.

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