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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PDGFB

Variant:p.R100C

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PDGFB

NM_002608.4:p.R100C

hg38:chr22:39231780 G>A

Associated Papers

Skin calcium deposits in primary familial brain calcification: A novel potential biomarker.

Emmi A et al.

Annals of Clinical and Translational Neurology, 2025

39935191 (PubMed )

Familial Brain Calcifications With Leukoencephalopathy: A Novel PDGFB Variant.

Shen J et al.

Neurology. Genetics, 2022

35747618 (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."