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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PDGFB

Variant:p.V18A

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PDGFB

NM_002608.4:p.V18A

hg38:chr22:39243911 A>G

Associated Papers

A whole exome sequencing study of a Korean proband with idiopathic basal ganglia calcification and its daughter.

Lee BD et al.

Medicine, 2018

30335026 (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."