The report of LMNB2-related progressive myoclonus epilepsy and ataxia due to missense homozygous c.473G>T variant.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8381754 | PMC |
http://dx.doi.org/10.1002/ccr3.4520 | DOI Listing |
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