Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.G849fs
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NF1

NM_001042492.3:p.G849fs

Associated Papers

Genetic characterization of a Chinese cohort of suspected pediatric NF1 patients: a large-scale study using optimized whole-exome sequencing.

Wang K et al.

Journal of Human Genetics, 2025

A Translational Approach to Spinal Neurofibromatosis: Clinical and Molecular Insights from a Wide Italian Cohort.

Paterra R et al.

Cancers, 2022

Somatic NF1 inactivation is a frequent event in sporadic pheochromocytoma.

Burnichon N et al.

Human Molecular Genetics, 2012

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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."