Varaico: Literature-Extracted Genetic Variants

Gene:EIF2B2
Variant:p.A204Fs
Back to variants list

EIF2B2

NM_014239.4:p.A204Fs

Associated Papers

Genetic and clinical heterogeneity in eIF2B-related disorder.

Maletkovic J et al.

Journal of Child Neurology, 2008

The large spectrum of eIF2B-related diseases.

Fogli A et al.

Biochemical Society Transactions, 2006

Vanishing white matter disease: a review with focus on its genetics.

Pronk JC et al.

Mental Retardation and Developmental Disabilities Research Reviews, 2006

Leukoencephalopathy with vanishing white matter: from magnetic resonance imaging pattern to five genes.

Leegwater PA et al.

Journal of Child Neurology, 2003

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."