Varaico: Literature-Extracted Genetic Variants

Gene:TNXB
Variant:p.D1650_G1651del2
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TNXB

NM_001365276.2:p.D1650_G1651del2

Associated Papers

Clinical and molecular delineation of classical-like Ehlers-Danlos syndrome through a comprehensive next-generation sequencing-based screening system.

Yamaguchi T et al.

Frontiers in Genetics, 2023

Classical-like Ehlers-Danlos syndrome: a clinical description of 20 newly identified individuals with evidence of tissue fragility.

Green C et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

Electron microscopy in the diagnosis of Ehlers-Danlos syndromes: correlation with clinical and genetic investigations.

Angwin C et al.

The British Journal of Dermatology, 2020

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