Varaico: Literature-Extracted Genetic Variants

Gene:COL2A1
Variant:p.G996S
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COL2A1

NM_001844.5:p.G996S

Associated Papers

Exploring skeletal disorders in cattle and sheep: a WGS-based framework for diagnosis and classification.

Jacinto J et al.

Genetics, Selection, Evolution : Gse, 2025

A large deletion in the COL2A1 gene expands the spectrum of pathogenic variants causing bulldog calf syndrome in cattle.

Jacinto JGP et al.

Acta Veterinaria Scandinavica, 2020

Germline mutation within COL2A1 associated with lethal chondrodysplasia in a polled Holstein family.

Reinartz S et al.

Bmc Genomics, 2017

Rapid Discovery of De Novo Deleterious Mutations in Cattle Enhances the Value of Livestock as Model Species.

Bourneuf E et al.

Scientific Reports, 2017

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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."