Varaico: Literature-Extracted Genetic Variants

Gene:ALAD
Variant:p.L16L
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ALAD

NM_000031.6:p.L16L

Associated Papers

Practical recommendations for biochemical and genetic diagnosis of the porphyrias.

Aarsand AK et al.

Liver International : Official Journal of the International Association for the Study of the Liver, 2025

Erythropoietic protoporphyrias: Pathogenesis, diagnosis and management.

Minder AE et al.

Liver International : Official Journal of the International Association for the Study of the Liver, 2025

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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."