Varaico: Literature-Extracted Genetic Variants

Gene:MLC1
Variant:p.Y278H
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MLC1

NM_015166.4:p.Y278H

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

[Analysis of HEPACAM mutations in a Chinese family with megalencephalic leukoencephalopathy with subcortical cysts].

Guo MM et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2012

Functional studies of MLC1 mutations in Chinese patients with megalencephalic leukoencephalopathy with subcortical cysts.

Xie H et al.

Plos One, 2012

Identification of novel MLC1 mutations in Chinese patients with megalencephalic leukoencephalopathy with subcortical cysts (MLC).

Wang J et al.

Journal of Human Genetics, 2011

[Effects on astrocytic function from MLC1 gene mutation with megalencephalic leukoencephalopathy with subcortical cysts].

Wang JM et al.

Sheng Li Ke Xue Jin Zhan [progress in Physiology], 2010

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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."