Reinhard Keimer

Reinhard Keimer

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Reinhard Keimer

Reinhard Keimer

Publications by authors named "Reinhard Keimer"

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Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy.

Nat Commun 2020 Jan 30;11(1):595. Epub 2020 Jan 30.

Institute of Medical Biology, A*STAR, Biopolis, Singapore, 138648, Singapore.

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http://dx.doi.org/10.1038/s41467-020-14360-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6992768PMC
January 2020

A previously identified missense mutation in STYXL1 is likely benign.

Eur J Med Genet 2019 Nov 22;62(11):103582. Epub 2018 Nov 22.

Department of Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany; German Center of Neurodegenerative Diseases (DZNE), Tübingen, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2018.11.016DOI Listing
November 2019