Varaico: Literature-Extracted Genetic Variants

Gene:NEO1
Variant:p.H1093Q
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NEO1

NM_002499.4:p.H1093Q

Associated Papers

Identification and characterization of short-chain dehydrogenase/reductase 3 (DHRS3) deficiency, a retinoic acid embryopathy of humans.

Hashimoto AS et al.

Genetics in Medicine Open, 2025

40519748 (PubMed )
Supplement: mmc1.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."