Varaico: Literature-Extracted Genetic Variants

Gene:MLC1
Variant:p.G88V
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MLC1

NM_015166.4:p.G88V

Associated Papers

Megalencephalic leukoencephalopathy with subcortical cysts: a variant update and review of the literature.

Passchier EMJ et al.

Frontiers in Genetics, 2024

38487253 (PubMed )
Supplement: Table1.pdf

Catalogue for Transmission Genetics in Arabs (CTGA) Database: Analysing Lebanese Data on Genetic Disorders.

Bizzari S et al.

Genes, 2021

34680914 (PubMed )
Supplement: genes-12-01518-s001.zip › SupplementaryTableS2_26-09-2021.xlsx › CTGA-unique_variants

Clinical and Genetic Characteristics of Leukodystrophies in Africa.

Amin M et al.

Journal of Neurosciences in Rural Practice, 2017

Molecular pathogenesis of megalencephalic leukoencephalopathy with subcortical cysts: mutations in MLC1 cause folding defects.

Duarri A et al.

Human Molecular Genetics, 2008

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

[Megalencephalic leucoencephalopathy with subcortical cysts: a study of a Lebanese family and a review of the literature].

Koussa S et al.

Revue Neurologique, 2005

Genetic heterogeneity of megalencephalic leukoencephalopathy and subcortical cysts.

Patrono C et al.

Neurology, 2003

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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."