Varaico: Literature-Extracted Genetic Variants

Gene:PCK1
Variant:p.R28K
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PCK1

NM_002591.4:p.R28K

Associated Papers

Underdiagnoses resulting from variant misinterpretation: Time for systematic reanalysis of whole exome data?

Al-Murshedi F et al.

European Journal of Medical 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."