Varaico: Literature-Extracted Genetic Variants

Gene:PDGFB
Variant:p.E74*
Back to variants list

PDGFB

NM_002608.4:p.E74*

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

Spectrum of SLC20A2, PDGFRB, PDGFB, and XPR1 mutations in a large cohort of patients with primary familial brain calcification.

Guo XX et al.

Human Mutation, 2019

A Novel SLC20A2 Mutation Associated with Familial Idiopathic Basal Ganglia Calcification and Analysis of the Genotype-Phenotype Association in Chinese Patients.

Ding Y et al.

Chinese Medical Journal, 2018

Mutation screening of PDGFB gene in Chinese population with primary familial brain calcification.

Yao XP et al.

Gene, 2016

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."