Varaico: Literature-Extracted Genetic Variants

Gene:COL9A2
Variant:p.G328R
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COL9A2

NM_001852.4:p.G328R

Associated Papers

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

Pejaver V et al.

American Journal of Human Genetics, 2022

36413997 (PubMed )
Supplement: mmc2.xlsx › mmc2

Association study of COL9A2 with lumbar disc disease in the Japanese population.

Seki S et al.

Journal of Human Genetics, 2006

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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."