Varaico: Literature-Extracted Genetic Variants

Gene:ARCN1
Variant:p.V212fs
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ARCN1

NM_001655.5:p.V212fs

Associated Papers

ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects.

Izumi K et al.

American Journal of Human Genetics, 2016

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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."