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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PDGFB

Variant:p.I106I

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PDGFB

NM_002608.4:p.I106I

hg38:chr22:39231760 G>A

Associated Papers

Upstream open reading frame-introducing variants in patients with primary familial brain calcification.

Rovelet-Lecrux A et al.

European Journal of Human Genetics : Ejhg, 2024

38433263 (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."