Varaico: Literature-Extracted Genetic Variants

Gene:MLC1
Variant:p.S246delFs
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MLC1

NM_015166.4:p.S246delFs

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

Identification in Chinese patients with GLIALCAM mutations of megalencephalic leukoencephalopathy with subcortical cysts and brain pathological study on Glialcam knock-in mouse models.

Shi Z et al.

World Journal of Pediatrics : Wjp, 2019

A founder mutation MLC1 c.736delA associated with megalencephalic leukoencephalopathy with subcortical cysts-1 in north Indian kindred.

Vellarikkal SK et al.

Clinical Genetics, 2018

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

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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."