Varaico: Literature-Extracted Genetic Variants

Gene:NFIX
Variant:p.D330fs
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NFIX

NM_001365902.3:p.D330fs

Associated Papers

Marshall-Smith syndrome: Novel pathogenic variant and previously unreported associations with precocious puberty and aortic root dilatation.

Aggarwal A et al.

European Journal of Medical Genetics, 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."