Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.R2452H
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NF1

NM_001042492.3:p.R2452H

Associated Papers

Case report: Gene mutation analysis and skin imaging of isolated café-au-lait macules.

Zhong Z et al.

Frontiers in Genetics, 2023

Editorial: Next generation sequencing (NGS) for rare diseases diagnosis - Volume II.

Yang XA et al.

Frontiers in Genetics, 2023

Analytical Validation of a Hybrid Capture-Based Next-Generation Sequencing Clinical Assay for Genomic Profiling of Cell-Free Circulating Tumor DNA.

Clark TA et al.

The Journal of Molecular Diagnostics : Jmd, 2018

29936259 (PubMed )
Supplement: mmc12.xlsx › Table_S12
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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."