Varaico: Literature-Extracted Genetic Variants

Gene:PDGFRB
Variant:p.P584L
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PDGFRB

NM_002609.4:p.P584L

Associated Papers

Kosaki overgrowth syndrome: A novel pathogenic variant in PDGFRB and expansion of the phenotype including cerebrovascular complications.

Foster A et al.

Clinical Genetics, 2020

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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."