Varaico: Literature-Extracted Genetic Variants

Gene:COL3A1
Variant:p.S1067_G1068Splc
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COL3A1

NM_000090.4:p.S1067_G1068Splc

Associated Papers

Spontaneous pneumothorax and hemothorax frequently precede the arterial and intestinal complications of vascular Ehlers-Danlos syndrome.

Shalhub S et al.

American Journal of Medical Genetics. Part A, 2019

Molecular diagnosis in vascular Ehlers-Danlos syndrome predicts pattern of arterial involvement and outcomes.

Shalhub S et al.

Journal of Vascular Surgery, 2014

Clinical and genetic features of 20 Japanese patients with vascular-type Ehlers-Danlos syndrome.

Shimaoka Y et al.

The British Journal of Dermatology, 2010

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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."