Varaico: Literature-Extracted Genetic Variants

Gene:HMBS
Variant:p.S28delFs
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HMBS

NM_000190.4:p.S28delFs

Associated Papers

Marked geographic aggregation of acute intermittent porphyria families carrying mutation Q180X in Venezuelan populations, with description of further mutations.

Paradisi I et al.

Journal of Inherited Metabolic Disease, 2010

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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."