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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:AP4S1

Variant:p.G144delFs

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AP4S1

NM_001254727.2:p.G144delFs

hg38:chr14:31083588 TG>T

Associated Papers

Improved genomic characterization of a clinically heterogeneous pediatric cohort with WGS vs. WES.

Brashear AM et al.

Scientific Reports, 2025

41152280 (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."