Varaico: Literature-Extracted Genetic Variants

Gene:POLR2A
Variant:p.H439del1
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POLR2A

NM_000937.5:p.H439del1

Associated Papers

Optic nerve sheath meningioma exhibits neural niche-associated transcriptomic features and rare copy number variation-linked evolution.

Sato D et al.

Brain Pathology (zurich, Switzerland), 2026

Genomic Landscape of Meningiomas.

Wang JZ et al.

Advances in Experimental Medicine and Biology, 2023

Germline mutation in POLR2A: a heterogeneous, multi-systemic developmental disorder characterized by transcriptional dysregulation.

Hansen AW et al.

Hgg Advances, 2021

Sporadic multiple meningiomas harbor distinct driver mutations.

Juratli TA et al.

Acta Neuropathologica Communications, 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."