Varaico: Literature-Extracted Genetic Variants

Gene:PDGFRB
Variant:p.R106P
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PDGFRB

NM_002609.4:p.R106P

Associated Papers

Case report: Primary familial brain calcification associated with a rare PDGFRB variant, coexisting with nontraumatic osteonecrosis of the femoral head.

Cao C et al.

Frontiers in Neuroscience, 2024

Severe brain calcification and migraine headache caused by SLC20A2 and PDGFRB heterozygous mutations in a five-year-old Chinese girl.

Sun H et al.

Molecular Genetics & Genomic Medicine, 2021

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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."