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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HSD17B4

Variant:p.A30delFs

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HSD17B4

NM_000414.4:p.A30delFs

hg38:chr5:119456343 TG>T

Associated Papers

D-Bifunctional Protein Deficiency Diagnosis-A Challenge in Low Resource Settings: Case Report and Review of the Literature.

Ognean ML et al.

International Journal of Molecular Sciences, 2024

38732138 (PubMed )

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