Varaico: Literature-Extracted Genetic Variants

Gene:COL2A1
Variant:p.Q29Splc
Back to variants list

COL2A1

NM_001844.5:p.Q29Splc

Associated Papers

Unexpected genotypes associated with severe paediatric conditions identified in a healthy population cohort.

Bylstra Y et al.

European Journal of Human Genetics : Ejhg, 2026

Clinical Spectrum and Molecular Characteristics of Inherited Ocular Diseases in a Cohort of Pediatric Patients With Infantile Nystagmus Syndrome.

Gong X et al.

Investigative Ophthalmology & Visual Science, 2025

40232708 (PubMed )
Supplement: iovs-66-4-39_s001.pdf

Spectrum of genetic variants in 306 patients with non-syndromic hearing loss from Croatia.

Sansović I et al.

Croatian Medical Journal, 2024

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."