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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ASH1L

Variant:p.R984C

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ASH1L

NM_018489.3:p.R984C

hg38:chr1:155479920 G>A

Associated Papers

Genetic variants and phenotypic data curated for the CAGI6 intellectual disability panel challenge.

Aspromonte MC et al.

Human Genetics, 2025

40019509 (PubMed )

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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."