Varaico: Literature-Extracted Genetic Variants

Gene:PDGFB
Variant:p.G132R
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PDGFB

NM_002608.4:p.G132R

Associated Papers

Small vessel disease in primary familial brain calcification with novel truncating PDGFB variants.

Yektay Farahmand M et al.

Neurologia I Neurochirurgia Polska, 2024

Primary brain calcification: an international study reporting novel variants and associated phenotypes.

Ramos EM et al.

European Journal of Human Genetics : Ejhg, 2018

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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."