Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.Y1948*
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NF1

NM_001042492.3:p.Y1948*

Associated Papers

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

Genetic diagnosis of neurofibromatosis type 1: targeted next- generation sequencing with Multiple Ligation-Dependent Probe Amplification analysis.

Wu-Chou YH et al.

Journal of Biomedical Science, 2018

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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."