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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PPOX

Variant:p.V290Splc

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PPOX

NM_001122764.3:p.V290Splc

hg38:chr1:161169905 G>T

Associated Papers

A novel mutation (1320InsT) identified in two Argentine families with variegate porphyria.

Siervi AD et al.

Human Mutation, 2000

10874330 (PubMed )

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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."