Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B1
Variant:p.F227C
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HSD17B1

NM_000413.4:p.F227C

Associated Papers

Characterization of 13 Novel Genetic Variants in Genes Associated with Epilepsy: Implications for Targeted Therapeutic Strategies.

Andjelkovic M et al.

Molecular Diagnosis & Therapy, 2024

39003674 (PubMed )
Supplement: 40291_2024_720_MOESM1_ESM.pdf
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