Varaico: Literature-Extracted Genetic Variants

Gene:ADH5
Variant:p.G311D
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ADH5

NM_000671.4:p.G311D

Associated Papers

Cord Blood Transplantation Using Myeloablative Conditioning for Pediatric Advanced Myelodysplastic Syndrome in AMeD Syndrome With a Novel ADH5 Variant.

Morishita Y et al.

Pediatric Blood & Cancer, 2025

Characteristic phenotypes of ADH5/ALDH2 deficiency during childhood.

Matsumoto M et al.

European Journal of Medical Genetics, 2024

Fanconi anemia and Aldehyde Degradation Deficiency Syndrome: Metabolism and DNA repair protect the genome and hematopoiesis from endogenous DNA damage.

Mu A et al.

Dna Repair, 2023

Emerging bone marrow failure syndromes- new pieces to an unsolved puzzle.

Feurstein S

Frontiers in Oncology, 2023

Two Aldehyde Clearance Systems Are Essential to Prevent Lethal Formaldehyde Accumulation in Mice and Humans.

Dingler FA et al.

Molecular Cell, 2020

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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."