Varaico: Literature-Extracted Genetic Variants

Gene:PDGFRA
Variant:p.L31F
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PDGFRA

NM_006206.6:p.L31F

Associated Papers

Progressive cerebellar atrophy in a patient with complex II and III deficiency and a novel deleterious variant in SDHA: A Counseling Conundrum.

Sturrock BRH et al.

Molecular Genetics & Genomic Medicine, 2021

Loss of expression of SDHA predicts SDHA mutations in gastrointestinal stromal tumors.

Wagner AJ et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2013

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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."