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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MAT1A

Variant:p.M189_Q190insFs

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MAT1A

NM_000429.3:p.M189_Q190insFs

hg38:chr10:80276577 C>CACCTGCA

Associated Papers

Genetic variants in DDX53 contribute to Autism Spectrum Disorder associated with the Xp22.11 locus.

Scala M et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

38234782 (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."