Varaico: Literature-Extracted Genetic Variants

Gene:MLC1
Variant:p.C46delFs
Back to variants list

MLC1

NM_015166.4:p.C46delFs

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 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

Megalencephalic leukoencephalopathy with subcortical cysts in a Tunisian boy.

Tinsa F et al.

Journal of Child Neurology, 2009

[Megalencephalic leukoencephalopathy with subcortical cysts: report of 4 new cases].

Jerbi Omezzine S et al.

Journal De Radiologie, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."