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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PTPRQ

Variant:p.I266delFs

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PTPRQ

NM_001145026.2:p.I266delFs

hg38:chr12:80460788 AT>A

Associated Papers

Semi-automated genomic newborn screening highlights complexities in reporting.

Chowdhury A et al.

Npj Genomic Medicine, 2026

41667506 (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."