Varaico: Literature-Extracted Genetic Variants

Gene:NFIX
Variant:p.V290_D291insA
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NFIX

NM_001365902.3:p.V290_D291insA

Associated Papers

Further delineation of Malan syndrome.

Priolo M et al.

Human Mutation, 2018

A novel mutation of NFIX causes Sotos-like syndrome (Malan syndrome) complicated with thoracic aortic aneurysm and dissection.

Oshima T et al.

Human Genome Variation, 2017

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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."