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

A haplotype at the COL9A2 gene locus contributes to the genetic risk for lumbar spinal stenosis in the Korean population.

Hyun SJ et al.

Spine, 2011

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."