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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ALAD

Variant:p.L296insFs

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ALAD

NM_000031.6:p.L296insFs

hg38:chr9:113389021 A>AT

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

16935474 (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."