Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.G96_Q97Splc
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NF1

NM_001042492.3:p.G96_Q97Splc

Associated Papers

Clinical and genomic features of Lynch syndrome differ by tumor site and disease spectrum.

Li S et al.

Nature Communications, 2025

41261115 (PubMed )
Supplement: 41467_2025_65164_MOESM6_ESM.xlsx › Figure_3A

A novel synonymous variant in the NF1 gene disrupting splicing contributes to neurofibromatosis pathogenesis.

Lin T et al.

Frontiers in Genetics, 2025

Genomic characterization of AML with aberrations of chromosome 7: a multinational cohort of 519 patients.

Halik A et al.

Journal of Hematology & Oncology, 2024

39160538 (PubMed )
Supplement: 13045_2024_1590_MOESM1_ESM.xlsx › Suppl._Dataset_3_WES_SNV

Granulin mutations associated with frontotemporal lobar degeneration and related disorders: an update.

Gijselinck I et al.

Human Mutation, 2008

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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."