Varaico: Literature-Extracted Genetic Variants

Gene:MLC1
Variant:p.K298_P299Splc
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MLC1

NM_015166.4:p.K298_P299Splc

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

[Megalencephalic leukoencephalopathy with cysts -the clinical importance in the genetic era].

Ballesteros-Cogollos V et al.

Revista De Neurologia, 2020

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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."