Varaico: Literature-Extracted Genetic Variants

Gene:EIF2B3
Variant:p.Y319C
Back to variants list

EIF2B3

NM_020365.5:p.Y319C

Associated Papers

Spectrum of Leukodystrophy and Genetic Leukoencephalopathy in Indian Population Diagnosed by Clinical Exome Sequencing and Clinical Utility.

Manisha KY et al.

Neurology. Genetics, 2024

Leukodystrophies and Genetic Leukoencephalopathies in Children Specified by Exome Sequencing in an Expanded Gene Panel.

Parayil Sankaran B et al.

Journal of Child Neurology, 2020

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."