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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PTPN23

Variant:p.A1292del1

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PTPN23

NM_015466.4:p.A1292del1

hg38:chr3:47411671 GGCT>G

Associated Papers

Community data-driven approach to identify pathogenic founder variants for pan-ethnic carrier screening panels.

Einhorn Y et al.

Human Genomics, 2023

36978159 (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."