Varaico: Literature-Extracted Genetic Variants

Gene:TNXB
Variant:p.D1512_V1518del0
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TNXB

NM_001365276.2:p.D1512_V1518del0

Associated Papers

Genetic Variants in the Extracellular Matrix Gene TNXB Predicted to Alter Fibronectin III Domains in Arterial Aneurysmal and Dissection Diseases.

Norgan Radler C et al.

International Journal of Molecular Sciences, 2025

Clinical and Molecular Spectrum Associated with COL6A3 c.7447A>G p.(Lys2483Glu) Variant: Elucidating its Role in Collagen VI-related Myopathies.

Villar-Quiles RN et al.

Journal of Neuromuscular Diseases, 2021

Contribution of rare and predicted pathogenic gene variants to childhood-onset lupus: a large, genetic panel analysis of British and French cohorts.

Belot A et al.

The Lancet. Rheumatology, 2020

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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."