Varaico: Literature-Extracted Genetic Variants

Gene:MLC1
Variant:p.V248L
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MLC1

NM_015166.4:p.V248L

Associated Papers

Mutant GlialCAM causes megalencephalic leukoencephalopathy with subcortical cysts, benign familial macrocephaly, and macrocephaly with retardation and autism.

López-Hernández T et al.

American Journal of Human Genetics, 2011

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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."