Varaico: Literature-Extracted Genetic Variants

Gene:LEO1
Variant:p.S41F
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LEO1

NM_138792.4:p.S41F

Associated Papers

LEO1 haploinsufficiency is associated with developmental delays and autism spectrum disorder.

Ung EC et al.

Journal of Human Genetics, 2026

Burden re-analysis of neurodevelopmental disorder cohorts for prioritization of candidate genes.

Smal N et al.

European Journal of Human Genetics : Ejhg, 2024

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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."