Varaico: Literature-Extracted Genetic Variants

Gene:NF2
Variant:p.E541*
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NF2

NM_000268.4:p.E541*

Associated Papers

Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.

Chen JL et al.

Annual Review of Genomics and Human Genetics, 2022

36044908 (PubMed )
Supplement: gg23-giannikou_suptable1.xlsx › NF2

Sporadic multiple meningiomas harbor distinct driver mutations.

Juratli TA et al.

Acta Neuropathologica Communications, 2021

Identification of a novel germline SMARCB1 nonsense mutation in a family manifesting both schwannomatosis and unilateral vestibular schwannoma.

Wu J et al.

Journal of Neuro-oncology, 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."