Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.K92insFs
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NF1

NM_001042492.3:p.K92insFs

Associated Papers

Beyond BRCA deficiency: Clinical and molecular predictors of survival in patients with BRCA-deficient tubo-ovarian high-grade serous carcinoma.

Zwimpfer TA et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

41040691 (PubMed )
Supplement: media-2.xlsx › Supplementary_Table_S12

Case Report: Low-grade glioma with NF1 loss of function mimicking diffuse intrinsic pontine glioma.

Bernstock JD et al.

Frontiers in Surgery, 2024

Novel SOX10 indel mutations drive schwannomas through impaired transactivation of myelination gene programs.

Williams EA et al.

Neuro-oncology, 2023

37436963 (PubMed )
Supplement: noad121_suppl_supplementary_tables.xlsx › Table_S6

Longitudinal Natural History Study of Children and Adults with Rare Solid Tumors: Initial Results for First 200 Participants.

Ahmed S et al.

Cancer Research Communications, 2023

Germline SMARCE1 mutations predispose to both spinal and cranial clear cell meningiomas.

Smith MJ et al.

The Journal of Pathology, 2014

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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."