Varaico: Literature-Extracted Genetic Variants

Gene:PDGFRB
Variant:p.Y498D
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PDGFRB

NM_001355016.2:p.Y498D

Associated Papers

Cancer-type somatic mutations in saccular cerebral aneurysms.

Rezai Jahromi B et al.

European Journal of Human Genetics : Ejhg, 2025

Somatic PDGFRB activating variants promote smooth muscle cell phenotype modulation in intracranial fusiform aneurysm.

Hao L et al.

Journal of Biomedical Science, 2024

Concurrent PTEN and PDGFRB Alterations Characterize Storiform Collagenoma.

Pakyari M et al.

The American Journal of Surgical Pathology, 2024

Increased PDGFRB and NF-κB signaling caused by highly prevalent somatic mutations in intracranial aneurysms.

Shima Y et al.

Science Translational Medicine, 2023

Odontogenic myxomas lack PDGFRB mutations reported in myofibromas.

de Siqueira EC et al.

Journal of Oral Pathology & Medicine : Official Publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology, 2020

Recurrent Somatic PDGFRB Mutations in Sporadic Infantile/Solitary Adult Myofibromas But Not in Angioleiomyomas and Myopericytomas.

Agaimy A et al.

The American Journal of Surgical Pathology, 2017

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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."