Varaico: Literature-Extracted Genetic Variants

Gene:COL5A1
Variant:p.R1062*
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COL5A1

NM_000093.5:p.R1062*

Associated Papers

Iliac artery dissection and rupture in a patient with classic Ehlers-Danlos syndrome due to COL5A1 null variant.

Pujari A et al.

Journal of Vascular Surgery Cases and Innovative Techniques, 2024

Arterial complications in classical Ehlers-Danlos syndrome: a case series.

Angwin C et al.

Journal 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

Ehlers-Danlos syndrome, classical type.

Bowen JM et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2017

Familial Ehlers-Danlos syndrome with lethal arterial events caused by a mutation in COL5A1.

Monroe GR et al.

American Journal of Medical Genetics. Part A, 2015

Superior mesenteric artery aneurysm in a 9-year-old boy with classical Ehlers-Danlos syndrome.

de Leeuw K et al.

American Journal of Medical Genetics. Part A, 2012

Arterial rupture in classic Ehlers-Danlos syndrome with COL5A1 mutation.

Borck G et al.

American Journal of Medical Genetics. Part A, 2010

The molecular basis of classic Ehlers-Danlos syndrome: a comprehensive study of biochemical and molecular findings in 48 unrelated patients.

Malfait F et al.

Human Mutation, 2005

Ehlers-Danlos syndrome type IV in association with a (c.970G>A) mutation in the COL3A1 gene.

Rebelo M et al.

Acta Medica Portuguesa, 0

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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."