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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:AUTS2

Variant:p.P288_I289insFs

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AUTS2

NM_015570.4:p.P288_I289insFs

hg38:chr7:70762964 G>GAAGAGCCAGGACTGTTGCA

Associated Papers

AUTS2 disruption underlies radioulnar synostosis and skeletal dysmorphogenesis: evidence from four unrelated cases.

Liu C et al.

Journal of Medical Genetics, 2025

40670150 (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."