Varaico: Literature-Extracted Genetic Variants

Gene:AIP
Variant:p.P296insFs
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AIP

NM_003977.4:p.P296insFs

Associated Papers

Proteasomal degradation regulates expression of porphobilinogen deaminase (PBGD) mutants of acute intermittent porphyria.

Grünberg-Etkovitz N et al.

Biochimica Et Biophysica Acta, 2006

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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."