Varaico: Literature-Extracted Genetic Variants

Gene:COL2A1
Variant:p.Q479fs
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COL2A1

NM_001844.5:p.Q479fs

Associated Papers

Reliability of clinical impressions and optimal genetic diagnostic strategies of heritable connective tissue disorders with ocular involvement in a large Chinese cohort.

Shu QM et al.

Human Genomics, 2025

Next-generation sequencing-aided precise diagnosis of Stickler syndrome type I.

Wang DD et al.

Acta Ophthalmologica, 2020

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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."