Varaico: Literature-Extracted Genetic Variants

Gene:NF2
Variant:p.E545K
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NF2

NM_000268.4:p.E545K

Associated Papers

Whole-Exome Sequencing Reveals Recurrent but Heterogeneous Mutational Profiles in Sporadic WHO Grade 1 Meningiomas.

González-Tablas M et al.

Frontiers in Oncology, 2021

34868937 (PubMed )
Supplement: DataSheet_1.docx

Development and clinical application of an integrative genomic approach to personalized cancer therapy.

Uzilov AV et al.

Genome Medicine, 2016

Lymphatic and other vascular malformative/overgrowth disorders are caused by somatic mutations in PIK3CA.

Luks VL et al.

The Journal of Pediatrics, 2015

Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum.

Keppler-Noreuil KM et al.

American Journal of Medical Genetics. Part A, 2014

Analysis of PIK3CA exon 9 and 20 mutations in breast cancers using PCR-HRM and PCR-ARMS: correlation with clinicopathological criteria.

Harlé A et al.

Oncology Reports, 2013

Distinct overlapping sequences at the carboxy-terminus of merlin regulate its tumour suppressor and morphogenic activity.

Laulajainen M et al.

Journal of Cellular and Molecular Medicine, 2012

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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."