Varaico: Literature-Extracted Genetic Variants

Gene:PDGFB
Variant:p.N115fs
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PDGFB

NM_002608.4:p.N115fs

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

Functional evaluation of PDGFB-variants in idiopathic basal ganglia calcification, using patient-derived iPS cells.

Sekine SI et al.

Scientific Reports, 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."