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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PTPN21

Variant:p.P447S

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PTPN21

NM_007039.4:p.P447S

hg38:chr14:88480092 G>A

Associated Papers

Whole genome sequencing of HER2-positive metastatic extramammary Paget's disease: a case report.

Lim BY et al.

Orphanet Journal of Rare Diseases, 2024

38831459 (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."