Varaico: Literature-Extracted Genetic Variants

Gene:ALAD
Variant:p.Y56Y
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ALAD

NM_000031.6:p.Y56Y

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

Genetic susceptibility to low-level lead exposure in men: Insights from ALAD polymorphisms.

Stajnko A et al.

International Journal of Hygiene and Environmental Health, 2024

ALAD and APOE polymorphisms are associated with lead and mercury levels in Italian pregnant women and their newborns with adequate nutritional status of zinc and selenium.

Palir N et al.

Environmental Research, 2023

Modification by genetic polymorphism of lead-induced IQ alteration: a systematic review.

Lima LS et al.

Environmental Science and Pollution Research International, 2022

Dual gene defects involving delta-aminolaevulinate dehydratase and coproporphyrinogen oxidase in a porphyria patient.

Akagi R et al.

British Journal of Haematology, 2006

A novel mutation of delta-aminolaevulinate dehydratase in a healthy child with 12% erythrocyte enzyme activity.

Akagi R et al.

British Journal of Haematology, 1999

RGS3 and IL1RAPL1 missense variants implicate defective neurotransmission in early-onset inherited schizophrenias.

Kanwal A et al.

Journal of Psychiatry & Neuroscience : Jpn, 0

36318984 (PubMed )
Supplement: JPN-220070-at-1.pdf
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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."