Varaico: Literature-Extracted Genetic Variants

Gene:MLC1
Variant:p.L310insFs
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MLC1

NM_015166.4:p.L310insFs

Associated Papers

Megalencephalic leukoencephalopathy with cysts in twelve Egyptian patients: novel mutations in MLC1 and HEPACAM and a founder effect.

Abdel-Salam GM et al.

Metabolic Brain Disease, 2016

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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."