Varaico: Literature-Extracted Genetic Variants

Gene:COL9A3
Variant:p.P369_G370Splc
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COL9A3

NM_001853.4:p.P369_G370Splc

Associated Papers

Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.

Ayoub C et al.

Human Genomics, 2025

41430327 (PubMed )
Supplement: 40246_2025_891_MOESM1_ESM.xlsx › Supplementary_Table_S2.

The genetics and disease mechanisms of rhegmatogenous retinal detachment.

Govers BM et al.

Progress in Retinal and Eye Research, 2023

Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome.

Rad A et al.

Orphanet Journal of Rare Diseases, 2022

Heterozygous COL9A3 variants cause severe peripheral vitreoretinal degeneration and retinal detachment.

Nash BM et al.

European Journal of Human Genetics : Ejhg, 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."