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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ETHE1

Variant:p.R7insFs

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ETHE1

NM_014297.5:p.R7insFs

hg38:chr19:43527157 C>CCT

Associated Papers

Ethylmalonic encephalopathy caused by biallelic truncating variants in ETHE1: A case report.

Ruiz-Martinez DA et al.

Sage Open Medical Case Reports, 2026

41551113 (PubMed )

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