Varaico: Literature-Extracted Genetic Variants

Gene:ADH5
Variant:p.S367Splc
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ADH5

NM_000671.4:p.S367Splc

Associated Papers

A case of ADH5/ALDH2 deficiency combined with 3q29 microduplication syndrome.

Chenzhuo S et al.

Bmc Pediatrics, 2025

41039406 (PubMed )
Supplement: 12887_2025_5948_MOESM1_ESM.pdf

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

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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."