Varaico: Literature-Extracted Genetic Variants

Gene:PDGFRB
Variant:p.V665D
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PDGFRB

NM_002609.4:p.V665D

Associated Papers

Clinical and molecular response to dasatinib in an adult patient with Penttinen syndrome.

Iznardo H et al.

American Journal of Medical Genetics. Part A, 2022

PDGFRB mutation causes autosomal-dominant Penttinen syndrome.

Aminkeng F

Clinical Genetics, 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."