Varaico: Literature-Extracted Genetic Variants

Gene:MLC1
Variant:p.C46fs
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MLC1

NM_015166.4:p.C46fs

Associated Papers

Eukaryotic initiation factor 2B (eIF2B) GEF activity as a diagnostic tool for EIF2B-related disorders.

Horzinski L et al.

Plos One, 2009

Alexander disease and megalencephalic leukoencephalopathy with subcortical cysts: leukodystrophies arising from astrocyte dysfunction.

Gorospe JR et al.

Mental Retardation and Developmental Disabilities Research Reviews, 2006

Identification of novel mutations in MLC1 responsible for megalencephalic leukoencephalopathy with subcortical cysts.

Leegwater PA et al.

Human Genetics, 2002

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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."