Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.L94F
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NF1

NM_001042492.3:p.L94F

Associated Papers

The role of untranslated region variants in Mendelian disease: a review.

Wieder N et al.

European Journal of Human Genetics : Ejhg, 2025

Pathogenic noncoding variants in the neurofibromatosis and schwannomatosis predisposition genes.

Perez-Becerril C et al.

Human Mutation, 2021

Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only.

Evans DG et al.

Ebiomedicine, 2016

Longitudinal profiling of IDH-mutant astrocytomas reveals acquired RAS-MAPK pathway mutations associated with inferior survival.

Rodriguez Almaraz E et al.

Neuro-oncology Advances, 0

40051658 (PubMed )
Supplement: vdaf024_suppl_supplementary_tables_s1-s4.xlsx › Table_S2
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