Varaico: Literature-Extracted Genetic Variants

Gene:MRPL28
Variant:p.G26D
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MRPL28

NM_006428.5:p.G26D

Associated Papers

Rational search for genes in familial cortical myoclonic tremor with epilepsy, clues from recent advances.

Cen ZD et al.

Seizure, 2016

The ACMSD gene, involved in tryptophan metabolism, is mutated in a family with cortical myoclonus, epilepsy, and parkinsonism.

Martí-Massó JF et al.

Journal of Molecular Medicine (berlin, Germany), 2013

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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."