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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PDGFB

Variant:p.Q140*

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PDGFB

NM_002608.4:p.Q140*

hg38:chr22:39231660 G>A

Associated Papers

Genetic background of neurological disorders with basal ganglia calcification.

Yektay Farahmand M et al.

Journal of Neurology, 2025

40947452 (PubMed )

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

Yektay Farahmand M et al.

Neurologia I Neurochirurgia Polska, 2024

38156729 (PubMed )

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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."