Varaico: Literature-Extracted Genetic Variants

Gene:EFEMP2
Variant:p.N302S
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EFEMP2

NM_016938.5:p.N302S

Associated Papers

Autosomal recessive cutis laxa type Ib-Successful redo aortic root and arch replacement.

Pees C et al.

Clinical Case Reports, 2022

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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."