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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HSD17B4

Variant:p.D117Splc

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HSD17B4

NM_000414.4:p.D117Splc

hg38:chr5:119477415 A>T

Associated Papers

D-Bifunctional Protein Deficiency Type III: Two Turkish Cases and a Novel HSD17B4 Gene Variant.

Erdal AE et al.

Molecular Syndromology, 2026

40416444 (PubMed )

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