Varaico: Literature-Extracted Genetic Variants

Gene:COL9A3
Variant:p.D49_G50Splc
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COL9A3

NM_001853.4:p.D49_G50Splc

Associated Papers

Exome Sequencing Identifies a Novel Splicing Variant in COL9A3 Resulting in Multiple Epiphyseal Dysplasia: A Case Report.

Alnuaimi B et al.

Molecular Genetics & Genomic Medicine, 2025

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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."