Varaico: Literature-Extracted Genetic Variants

Gene:ASH1L
Variant:p.K1348R
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ASH1L

NM_018489.3:p.K1348R

Associated Papers

A novel de novo missense variant in ASH1L associated with mild autism spectrum disorder and an uneven cognitive profile: a case report.

Pulatov O et al.

Journal of Medical Case Reports, 2025

Sex differences in the developing human cortex intersect with genetic risk of neurodevelopmental disorders.

Hennick K et al.

Biorxiv : the Preprint Server for Biology, 2025

40950053 (PubMed )
Supplement: media-31.xlsx › sex-gene-DNMs
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