Varaico: Literature-Extracted Genetic Variants

Gene:HMBS
Variant:p.L170_N171delFs
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HMBS

NM_000190.4:p.L170_N171delFs

Associated Papers

Porphyric encephalopathy in a 15-year-old girl: A case report.

Dukkipati SS et al.

Sage Open Medical Case Reports, 2025

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."