Varaico: Literature-Extracted Genetic Variants

Gene:EFEMP2
Variant:p.R83C
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EFEMP2

NM_016938.5:p.R83C

Associated Papers

Whole-exome sequencing uncovers a novel EFEMP2 gene variant (c.C247T) associated with dominant nonsyndromic thoracic aortic aneurysm.

Sadeghipour P et al.

Laboratory Medicine, 2024

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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."