Varaico: Literature-Extracted Genetic Variants

Gene:TNXB
Variant:p.E707*
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TNXB

NM_001365276.2:p.E707*

Associated Papers

Tenascin-X Deficiency Causing Classical-Like Ehlers-Danlos Syndrome Type 1 in Humans is a Significant Risk Factor of Gastrointestinal and Tracheal Ruptures.

van Gurp JE et al.

Clinical and Translational Gastroenterology, 2025

Novel TNXB Variants in Two Italian Patients with Classical-Like Ehlers-Danlos Syndrome.

Micale L et al.

Genes, 2019

Clinical and Molecular Characterization of Classical-Like Ehlers-Danlos Syndrome Due to a Novel TNXB Variant.

Rymen D et al.

Genes, 2019

31731524 (PubMed )
Supplement: genes-10-00843-s001.zip › Supplementary_data.pdf
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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."