Varaico: Literature-Extracted Genetic Variants

Gene:PDGFRB
Variant:p.S57S
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PDGFRB

NM_002609.4:p.S57S

Associated Papers

Expert consensus on screening, diagnosis and treatment of multiple carboxylase deficiency.

Division of Biochemistry and Metabolism, Medical Genetics Branch, Chinese Medical Association et al.

Zhejiang Da Xue Xue Bao. Yi Xue Ban = Journal of Zhejiang University. Medical Sciences, 2022

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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."