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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PIGU

Variant:p.S22A

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PIGU

NM_080476.5:p.S22A

hg38:chr20:34677022 A>C

Associated Papers

Aicardi Syndrome Is a Genetically Heterogeneous Disorder.

Ha TT et al.

Genes, 2023

37628618 (PubMed )

Supplement: genes-14-01565-s001.zip › genes-2488016-supplementary › Ha.Aicardi.Supplemental › Table_S4.xlsx › Table_S3

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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."