Varaico: Literature-Extracted Genetic Variants

Gene:ALAD
Variant:p.L273R
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ALAD

NM_000031.6:p.L273R

Associated Papers

Co-synthesis of Human delta-Aminolevulinate Dehydratase (ALAD) Mutants with the Wild-type Enzyme in Cell-free System-Critical Importance of Conformation on Enzyme Activity-.

Inoue R et al.

Journal of Clinical Biochemistry and Nutrition, 2008

The third case of Doss porphyria (delta-amino-levulinic acid dehydratase deficiency) in Germany.

Doss MO et al.

Journal of Inherited Metabolic Disease, 2004

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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."