Varaico: Literature-Extracted Genetic Variants

Gene:BGN
Variant:p.K147E
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BGN

NM_001711.6:p.K147E

Associated Papers

Proteoglycan Dysfunction: A Common Link Between Intervertebral Disc Degeneration and Skeletal Dysplasia.

Sao K et al.

Neurospine, 2024

Sequence features, structure, ligand interaction, and diseases in small leucine rich repeat proteoglycans.

Matsushima N et al.

Journal of Cell Communication and Signaling, 2021

Pathophysiological Significance of Dermatan Sulfate Proteoglycans Revealed by Human Genetic Disorders.

Mizumoto S et al.

Pharmaceuticals (basel, Switzerland), 2017

BGN Mutations in X-Linked Spondyloepimetaphyseal Dysplasia.

Cho SY et al.

American Journal of Human Genetics, 2016

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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."