Varaico: Literature-Extracted Genetic Variants

Gene:COL2A1
Variant:p.P505S
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COL2A1

NM_001844.5:p.P505S

Associated Papers

Blended collagenopathy and optic atrophy: a novel phenotype.

Raghu N et al.

Journal of Aapos : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus, 2025

Whole Exome Sequencing Analysis in Fetal Skeletal Dysplasia Detected by Ultrasonography: An Analysis of 38 Cases.

Peng Y et al.

Frontiers in Genetics, 2021

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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."