Varaico: Literature-Extracted Genetic Variants

Gene:MLC1
Variant:p.V303_L306Fs
Back to variants list

MLC1

NM_015166.4:p.V303_L306Fs

Associated Papers

The landscape of pediatric genetic white matter disorders at a tertiary referral hospital in Upper Egypt and the report of 31 novel variants.

Noureldeen MM et al.

Italian Journal of Pediatrics, 2025

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 without macrocephaly: A case study of comorbid Turner's syndrome.

Brožová K et al.

Clinical Neurology and Neurosurgery, 2019

Megalencephalic leukoencephalopathy with cysts in twelve Egyptian patients: novel mutations in MLC1 and HEPACAM and a founder effect.

Abdel-Salam GM et al.

Metabolic Brain Disease, 2016

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."