Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.C93*
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NF1

NM_001042492.3:p.C93*

Associated Papers

Biallelic inactivation of the NF1 tumour suppressor gene in juvenile myelomonocytic leukaemia: Genetic evidence of driver function and implications for diagnostic workup.

Ramamoorthy S et al.

British Journal of Haematology, 2024

Pan-cancer whole-genome analyses of metastatic solid tumours.

Priestley P et al.

Nature, 2019

31645765 (PubMed )
Supplement: 41586_2019_1689_MOESM14_ESM.xlsx › Sheet1

Neurofibromatosis type 1-associated tumours: their somatic mutational spectrum and pathogenesis.

Laycock-van Spyk S et al.

Human Genomics, 2011

Molecular pathogenesis of multiple gastrointestinal stromal tumors in NF1 patients.

Maertens O et al.

Human Molecular Genetics, 2006

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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."