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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HSD17B4

Variant:p.Q141delFs

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HSD17B4

NM_000414.4:p.Q141delFs

hg38:chr5:119477488 CAG>C

Associated Papers

HSD17B4 deficiency causes dysregulation of primary cilia and is alleviated by acetyl-CoA.

Bae JE et al.

Nature Communications, 2025

40102401 (PubMed )

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