Varaico: Literature-Extracted Genetic Variants

Gene:BGN
Variant:p.G259V
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BGN

NM_001711.6:p.G259V

Associated Papers

Expanding the clinical spectrum of biglycan-related Meester-Loeys syndrome.

Meester JAN et al.

Npj Genomic Medicine, 2024

IPSC reprogramming of two patients with spondyloepimetaphyseal dysplasia (SEMD, biglycan type).

De Kinderen P et al.

Stem Cell Research, 2023

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

Matsushima N et al.

Journal of Cell Communication and Signaling, 2021

Meester-Loeys Syndrome.

Meester JAN et al.

Advances in Experimental Medicine and Biology, 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."