Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.E196Splc
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NF1

NM_001042492.3:p.E196Splc

Associated Papers

Molecular insights into genodermatoses: Genetic findings from 43 patients.

Sama AD et al.

Archives of Dermatological Research, 2025

Novel Gene Variants in a Nationwide Cohort of Patients with Pheochromocytoma and Paraganglioma.

Martínez de Lapiscina I et al.

International Journal of Molecular Sciences, 2024

Mutational Spectrum and Genotype-phenotype Correlations in Neurofibromatosis Type 1 Patients from North Macedonia: Identification of Ten Novel NF1 Pathogenic Variants

Gjorgjievska M et al.

Balkan Medical Journal, 2023

Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.

Chen JL et al.

Annual Review of Genomics and Human Genetics, 2022

36044908 (PubMed )
Supplement: gg23-giannikou_suptable1.xlsx › NF1

Co-occurrence of mutations in NF1 and other susceptibility genes in pheochromocytoma and paraganglioma.

Mellid S et al.

Frontiers in Endocrinology, 2022

Four-year follow-up study in a NF1 boy with a focal pontine hamartoma.

Parisi P et al.

Italian Journal of Pediatrics, 2013

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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."