Varaico: Literature-Extracted Genetic Variants

Gene:COL3A1
Variant:p.A319fs
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COL3A1

NM_000090.4:p.A319fs

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

COL3A1 haploinsufficiency results in a variety of Ehlers-Danlos syndrome type IV with delayed onset of complications and longer life expectancy.

Leistritz DF et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2011

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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."