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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:AGAP5

Variant:p.R653*

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AGAP5

NM_001144000.4:p.R653*

hg38:chr10:73674703 G>A

Associated Papers

Performance comparison of germline variant calling tools in sporadic disease cohorts.

Song Q et al.

Molecular Genetics and Genomics : Mgg, 2025

40913732 (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."