Varaico: Literature-Extracted Genetic Variants

Gene:PUF60
Variant:p.R123G
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PUF60

NM_078480.3:p.R123G

Associated Papers

The power of the Mediator complex-Expanding the genetic architecture and phenotypic spectrum of MED12-related disorders.

Charzewska A et al.

Clinical Genetics, 2018

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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."