Varaico: Literature-Extracted Genetic Variants

Gene:COL2A1
Variant:p.G720S
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COL2A1

NM_001844.5:p.G720S

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

A COL2A1 de novo variant in a Holstein bulldog calf.

Häfliger IM et al.

Animal Genetics, 2019

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."