Varaico: Literature-Extracted Genetic Variants

Gene:PDGFB
Variant:p.Q152_V153Splc
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PDGFB

NM_002608.4:p.Q152_V153Splc

Associated Papers

Case Report: Two Novel Frameshift Mutations in SLC20A2 and One Novel Splice Donor Mutation in PDGFB Associated With Primary Familial Brain Calcification.

Shen Y et al.

Frontiers in Genetics, 2021

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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."