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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RAD54L2

Variant:p.Y591del1

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RAD54L2

NM_015106.4:p.Y591del1

hg38:chr3:51638231 GTAT>G

Associated Papers

Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus.

Scala M et al.

American Journal of Human Genetics, 2025

39706195 (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."