Varaico: Literature-Extracted Genetic Variants

Gene:AIP
Variant:p.E283E
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AIP

NM_003977.4:p.E283E

Associated Papers

Molecular genetic study of acute intermittent porphyria in Russia: HMBS gene mutation spectrum and problem of penetrance.

Goncharova M et al.

Clinical Genetics, 2019

Influence of age and gender on the clinical expression of acute intermittent porphyria based on molecular study of porphobilinogen deaminase gene among Swiss patients.

Schuurmans MM et al.

Molecular Medicine (cambridge, Mass.), 2001

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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."