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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EIF2B4

Variant:p.L209F

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EIF2B4

NM_015636.4:p.L209F

hg38:chr2:27368102 G>A

Associated Papers

Identification of ten novel mutations in patients with eIF2B-related disorders.

Ohlenbusch A et al.

Human Mutation, 2005

15776425 (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."