Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.Q514delFs
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NF1

NM_001042492.3:p.Q514delFs

Associated Papers

Long-read sequencing for NF1 gene analysis: enhancing diagnostic accuracy for Neurofibromatosis type 1.

Zheng Y et al.

Human Molecular Genetics, 2025

40719757 (PubMed )
Supplement: supplemental-tabless1-4_clean_ddaf108.xlsx › Table-S1-All_samples

Risk of Optic Pathway Glioma in Neurofibromatosis Type 1: No Evidence of Genotype-Phenotype Correlations in A Large Independent Cohort.

Melloni G et al.

Cancers, 2019

NF1 mutations in neurofibromatosis 1 patients with plexiform neurofibromas.

Kluwe L et al.

Human Mutation, 2002

Clinical, radiologic, and genetic characteristics of histone H3 K27M-mutant diffuse midline gliomas in adults.

Schulte JD et al.

Neuro-oncology Advances, 0

33354667 (PubMed )
Supplement: vdaa142_suppl_supplementary_tables.xlsx › Table_S1_NGS_SNV_indel_data
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