Varaico: Literature-Extracted Genetic Variants

Gene:ASH1L
Variant:p.S1635fs
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ASH1L

NM_018489.3:p.S1635fs

Associated Papers

Clinical utility of genome sequencing in autism: illustrative examples from a genomic research study.

Selvanayagam T et al.

Journal of Medical Genetics, 2025

Expansion of the Genotypic and Phenotypic Spectrum of ASH1L-Related Syndromic Neurodevelopmental Disorder.

Cordova I et al.

Genes, 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."