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GENE:

EPM2A (EPM2A Glucan Phosphatase)

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Other names: EPM2A, EPM2A Glucan Phosphatase, Laforin, Epilepsy, Progressive Myoclonus Type 2A, Lafora Disease (Laforin), Epilepsy, Progressive Myoclonus Type 2, Lafora Disease (Laforin), EPM2A, Laforin Glucan Phosphatase, Glycogen Phosphatase, Glucan Phosphatase, Lafora PTPase, LAFPTPase, Laforin, LDE, LD, Laforin, Isoform 9, EPM2, MELF
Associations
Trials
12ms
Journal
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PPL (Periplakin) • MITF (Melanocyte Inducing Transcription Factor) • EPM2A (EPM2A Glucan Phosphatase) • LINC00518 (Long Intergenic Non-Protein Coding RNA 518) • TRAK2 (Trafficking Kinesin Protein 2)
over1year
EPM2AIP1 Immunohistochemistry Is Inadequate as A Surrogate Marker for MLH1 Promoter Hypermethylation Testing in Colorectal Cancer. (PubMed, Hum Pathol)
Taken together, EPM2AIP1 loss was 64% sensitive and 67% specific for MPH, with an accuracy of 64%. We conclude that, unless stain quality improves with different clones or platforms, EPM2AIP1 IHC will likely not be useful as a surrogate test for MPH in CRC.
Journal
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EPM2A (EPM2A Glucan Phosphatase)