Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.S82S
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NF1

NM_001042492.3:p.S82S

Associated Papers

Molecular and Clinical Profiles of Patients with RASopathies: Targeted Next-Generation Sequencing Panel Results and Identification of 14 Novel Disease-Causing Variants.

Ates K et al.

Molecular Syndromology, 2025

Expansion of the RASopathies.

Tidyman WE et al.

Current Genetic Medicine Reports, 2016

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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."