Varaico: Literature-Extracted Genetic Variants

Gene:MLC1
Variant:p.P294S
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MLC1

NM_015166.4:p.P294S

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

Clinical and Genetic Characteristics of Leukodystrophies in Africa.

Amin M et al.

Journal of Neurosciences in Rural Practice, 2017

Clinical, neuroimaging, and genetic characteristics of megalencephalic leukoencephalopathy with subcortical cysts in Egyptian patients.

Mahmoud IG et al.

Pediatric Neurology, 2014

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."