Varaico: Literature-Extracted Genetic Variants

Gene:NPPA
Variant:p.P59L
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NPPA

NM_006172.4:p.P59L

Associated Papers

Gene symbol: HMBS. Disease: Porphyria, acute intermittent.

Ulbrichova D et al.

Human Genetics, 2008

Characterization of two missense variants in the hydroxymethylbilane synthase gene in the Israeli population, which differ in their associations with acute intermittent porphyria.

Schneider-Yin X et al.

Molecular Genetics and Metabolism, 2008

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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."