Varaico: Literature-Extracted Genetic Variants

Gene:BGN
Variant:p.Q303P
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BGN

NM_001711.6:p.Q303P

Associated Papers

Molecular characterization and investigation of the role of genetic variation in phenotypic variability and response to treatment in a large pediatric Marfan syndrome cohort.

Meester JAN et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022

35058154 (PubMed )
Supplement: NIHMS1850106-supplement-Supplemental_Materials.pdf

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

Genetics of the extracellular matrix in aortic aneurysmal diseases.

Lin CJ et al.

Matrix Biology : Journal of the International Society for Matrix Biology, 2018

Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections.

Meester JA et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

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

Mizumoto S et al.

Pharmaceuticals (basel, Switzerland), 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."