Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.K1756_V1757Splc
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NF1

NM_001042492.3:p.K1756_V1757Splc

Associated Papers

A genotype-first approach identifies high incidence of NF1 pathogenic variants with distinct disease associations.

Safonov A et al.

Nature Communications, 2025

40169570 (PubMed )
Supplement: 41467_2025_57077_MOESM3_ESM.xlsx › Supplementary_Data_4

Clinical and Molecular Profile of Neurofibromatosis Type 1 Patients Using Revised Diagnostic Criteria - A Retrospective Cohort Study.

Rekha A et al.

Neurology India, 2024

Targeted DNA Sequencing of Cutaneous Melanoma Identifies Prognostic and Predictive Alterations.

Haugh AM et al.

Cancers, 2024

38611025 (PubMed )
Supplement: cancers-16-01347-s001.zip › cancers-2874995-supplementary.xlsx › TableS1
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