Varaico: Literature-Extracted Genetic Variants

Gene:MLC1
Variant:p.V303fs
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MLC1

NM_015166.4:p.V303fs

Associated Papers

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

Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts.

Leegwater PA et al.

American Journal of Human Genetics, 2001

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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."