Varaico: Literature-Extracted Genetic Variants

Gene:PLAG1
Variant:p.P247R
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PLAG1

NM_002655.3:p.P247R

Associated Papers

A novel likely pathogenic PLCG2 variant in a patient with a recurrent skin blistering disease and B-cell lymphopenia.

Park HS et al.

European Journal of Medical Genetics, 2022

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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."