Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.A219fs
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NF1

NM_001042492.3:p.A219fs

Associated Papers

Moyamoya Vasculopathy in Neurofibromatosis Type 1 Pediatric Patients: The Role of Rare Variants of RNF213.

Ognibene M et al.

Cancers, 2023

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

Paterra R et al.

Cancers, 2022

Identification and characterization of NF1 splicing mutations in Korean patients with neurofibromatosis type 1.

Jang MA et al.

Journal of Human Genetics, 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."