Varaico: Literature-Extracted Genetic Variants

Gene:MLC1
Variant:p.L135_N136insC
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MLC1

NM_015166.4:p.L135_N136insC

Associated Papers

Megalencephalic leukoencephalopathy with subcortical cysts: the importance of early diagnosis.

Bravo-Oro A et al.

Boletin Medico Del Hospital Infantil De Mexico, 2022

Eight novel mutations in MLC1 from 18 Iranian patients with megalencephalic leukoencephalopathy with subcortical cysts.

Kariminejad A et al.

European Journal of Medical Genetics, 2015

Clinical applications and implications of common and founder mutations in Indian subpopulations.

Ankala A et al.

Human Mutation, 2015

Ancestral founder mutations in calpain-3 in the Indian Agarwal community: historical, clinical, and molecular perspective.

Ankala A et al.

Muscle & Nerve, 2013

Megalencephalic leucoencephalopathy with cysts: defect in chloride currents and cell volume regulation.

Ridder MC et al.

Brain : a Journal of Neurology, 2011

Molecular genetic studies in Indian patients with megalencephalic leukoencephalopathy.

Shukla P et al.

Pediatric Neurology, 2011

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

Megalencephalic leukoencephalopathy with subcortical cysts: an update and extended mutation analysis of MLC1.

Ilja Boor PK et al.

Human Mutation, 2006

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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."