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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DLST

Variant:p.A241_Q242del1

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DLST

NM_001933.5:p.A241_Q242del1

hg38:chr14:74894361 CCCA>C

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

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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."