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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PRG4

Variant:p.T431fs

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PRG4

NM_005807.6:p.T431fs

hg38:chr1:186307010 ACT>N

Associated Papers

A frameshift mutation in the PRG4 gene causing camptodactyly-arthropathy-coxa vara-pericarditis syndrome: a case report.

Koyutourk B et al.

Modern Rheumatology Case Reports, 2025

40874560 (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."