Varaico: Literature-Extracted Genetic Variants

Gene:MMUT
Variant:p.P234S
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MMUT

NM_000255.4:p.P234S

Associated Papers

Very late onset methylmalonic acidemia (cblB type) as a cause of status epilepticus, leukoencephalopathy and myelopathy.

Bayat M et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2024

The role of lamin B2 in human diseases.

Li Y et al.

Gene, 2023

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."