Varaico: Literature-Extracted Genetic Variants

Gene:PDGFB
Variant:p.P122L
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PDGFB

NM_002608.4:p.P122L

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

Familial Brain Calcifications With Leukoencephalopathy: A Novel PDGFB Variant.

Shen J et al.

Neurology. Genetics, 2022

Brain Calcification and Movement Disorders.

Kostić VS et al.

Current Neurology and Neuroscience Reports, 2017

Clinical heterogeneity of primary familial brain calcification due to a novel mutation in PDGFB.

Keogh MJ et al.

Neurology, 2015

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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."