Varaico: Literature-Extracted Genetic Variants

Gene:PDGFRB
Variant:p.R561_Y562del1
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PDGFRB

NM_002609.4:p.R561_Y562del1

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

Odontogenic myxomas lack PDGFRB mutations reported in myofibromas.

de Siqueira EC et al.

Journal of Oral Pathology & Medicine : Official Publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology, 2020

A novel de novo PDGFRB variant in a child with severe cerebral malformations, intracerebral calcifications, and infantile myofibromatosis.

Guimier A et al.

American Journal of Medical Genetics. Part A, 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."