Varaico: Literature-Extracted Genetic Variants

Gene:CPZ
Variant:p.R565H
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CPZ

NM_003652.4:p.R565H

Associated Papers

Mutations in NCAPG2 Cause a Severe Neurodevelopmental Syndrome that Expands the Phenotypic Spectrum of Condensinopathies.

Khan TN et al.

American Journal of Human Genetics, 2019

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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."