Varaico: Literature-Extracted Genetic Variants

Gene:COL2A1
Variant:p.P478L
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COL2A1

NM_001844.5:p.P478L

Associated Papers

Rare Germline Variants in Chordoma-Related Genes and Chordoma Susceptibility.

Yepes S et al.

Cancers, 2021

Molecular Diagnosis of Inherited Retinal Diseases in Indigenous African Populations by Whole-Exome Sequencing.

Roberts L et al.

Investigative Ophthalmology & Visual Science, 2016

27898983 (PubMed )
Supplement: iovs-57-14-17_s03.xlsx › 226RetnetDATA2P6M6A0ORout
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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."