Varaico: Literature-Extracted Genetic Variants

Gene:ASH1L
Variant:p.R2418*
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ASH1L

NM_018489.3:p.R2418*

Associated Papers

Novel heterozygous ASH1L nonsense variant involved in mild intellectual disability.

Liao B et al.

Frontiers in Neurology, 2025

Improvement of variant reclassification in genetic neurodevelopmental conditions.

Kowanda M et al.

Genetics in Medicine Open, 2024

39669614 (PubMed )
Supplement: mmc2.xlsx › Classification_criteria_applied
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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."