Varaico: Literature-Extracted Genetic Variants

Gene:SMCHD1
Variant:p.S522N
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SMCHD1

NM_015295.3:p.S522N

Associated Papers

The Case of the Missing Nose: Congenital Arhinia Case Presentation and Management Recommendations.

Fuller AK et al.

The Annals of Otology, Rhinology, and Laryngology, 2020

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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."