Varaico: Literature-Extracted Genetic Variants

Gene:COL2A1
Variant:p.A302P
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COL2A1

NM_001844.5:p.A302P

Associated Papers

Mechanisms and models of endoplasmic reticulum stress in chondrodysplasia.

Patterson SE et al.

Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2014

24668528 (PubMed )
Supplement: supplement_1.pdf

Caffey disease: new perspectives on old questions.

Nistala H et al.

Bone, 2014

ENU-induced missense mutation in the C-propeptide coding region of Col2a1 creates a mouse model of platyspondylic lethal skeletal dysplasia, Torrance type.

Furuichi T et al.

Mammalian Genome : Official Journal of the International Mammalian Genome Society, 2011

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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."