Varaico: Literature-Extracted Genetic Variants

Gene:COL2A1
Variant:p.R565H
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COL2A1

NM_001844.5:p.R565H

Associated Papers

Genetic analysis and reporting from whole-exome sequencing data in 1052 patients with intellectual disability.

Pan X et al.

Journal of Molecular Medicine (berlin, Germany), 2026

Genetic testing results of retinal dystrophies in a diverse population: impact of race and ethnicity.

Miller C et al.

Ophthalmic Genetics, 2025

39763302 (PubMed )
Supplement: supplement_1.xlsx › Supplementary_Table_2
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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."