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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EIF2B5

Variant:p.K103*

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EIF2B5

NM_003907.3:p.K103*

hg38:chr3:184136723 A>T

Associated Papers

Adult-onset vanishing white matter disease caused by the EIF2B5 c.185A>T (p.Asp62Val) variant.

Zhou J et al.

Frontiers in Genetics, 2026

41700296 (PubMed )

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