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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:P4HA2

Variant:p.K88fs

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P4HA2

NM_001017974.2:p.K88fs

hg38:chr5:132217266 TTT>N

Associated Papers

P4HA2 Participates in Pathogenesis of Refractive Error by Regulating Collagen Posttranslational Modification and Extracellular Matrix Balance.

Liu Y et al.

Human Mutation, 2026

41756678 (PubMed )

Supplement: HUMU-2026-9995099-s001.docx

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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."