Varaico: Literature-Extracted Genetic Variants

Gene:AGXT
Variant:p.P314_A315Splc
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AGXT

NM_000030.3:p.P314_A315Splc

Associated Papers

A frameshifting mutation in CHRNE unmasks skipping of the preceding exon.

Ohno K et al.

Human Molecular Genetics, 2003

Mutations in familial porphyria cutanea tarda: two novel and two previously described for hepatoerythropoietic porphyria.

Mendez M et al.

Human Mutation, 2000

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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."