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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EIF2B2

Variant:p.T238S

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EIF2B2

NM_014239.4:p.T238S

hg38:chr14:75006595 A>T

Associated Papers

LEUDEN Syndrome: A Novel Hypomyelinating Leukoencephalopathy in a 1-Year-Old Girl.

Bhanudeep S et al.

Annals of Indian Academy of Neurology, 2024

39150464 (PubMed )

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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."