Varaico: Literature-Extracted Genetic Variants

Gene:ALAD
Variant:p.V242I
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ALAD

NM_000031.6:p.V242I

Associated Papers

New cases of δ-aminolevulinic acid dehydratase deficiency: Functional insights into gene variants using an innovative mouse liver model.

Di Pierro E et al.

Journal of Internal Medicine, 2026

Profound hypotonia in an infant with δ-aminolevulinic acid dehydratase deficient porphyria.

Roach AN et al.

European Journal of Human Genetics : Ejhg, 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."