Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.Y692*
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NF1

NM_001042492.3:p.Y692*

Associated Papers

NF1 expression profiling in IDH-wildtype glioblastoma: genomic associations and survival outcomes.

Chang M et al.

Acta Neuropathologica Communications, 2024

39472976 (PubMed )
Supplement: 40478_2024_1875_MOESM5_ESM.xlsx › Supplementary_Table_1

Genomic alteration discordance in the paired primary-recurrent ovarian cancers: based on the comprehensive genomic profiling (CGP) analysis.

Dong J et al.

Journal of Ovarian Research, 2024

38937827 (PubMed )
Supplement: 13048_2024_1455_MOESM7_ESM.xlsx › Table_S2

A Translational Approach to Spinal Neurofibromatosis: Clinical and Molecular Insights from a Wide Italian Cohort.

Paterra R et al.

Cancers, 2022

Performance Evaluation of SpliceAI for the Prediction of Splicing of NF1 Variants.

Ha C et al.

Genes, 2021

34573290 (PubMed )
Supplement: genes-12-01308-s001.zip › Table_S1.xlsx › NF1_Variants

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

Laycock-van Spyk S et al.

Human Genomics, 2011

Germline and somatic NF1 gene mutations in plexiform neurofibromas.

Upadhyaya M et al.

Human Mutation, 2008

Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain.

Fahsold R et al.

American Journal of Human Genetics, 2000

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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."