Varaico: Literature-Extracted Genetic Variants

Gene:NF2
Variant:p.L54P
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NF2

NM_000268.4:p.L54P

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

Re-evaluation of missense variant classifications in NF2.

Sadler KV et al.

Human Mutation, 2022

35332608 (PubMed )
Supplement: HUMU-43-643-s001.xlsx › Sheet1

[A case of neurofibromatosis type 2 (NF2) presenting with late-onset axonal polyneuropathy].

Iseki C et al.

Rinsho Shinkeigaku = Clinical Neurology, 2009

Charcot-Marie-Tooth (CMT)-like polyneuropathy revealing neurofibromatosis type 2: A case report and review of the literature.

Pegat A et al.

Revue Neurologique, 0

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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."