Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.K33fs
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NF1

NM_001042492.3:p.K33fs

Associated Papers

Whole-body MRI evaluation in neurofibromatosis type 1 patients younger than 3 years old and the genetic contribution to disease progression.

Kang E et al.

Orphanet Journal of Rare Diseases, 2022

Clinical Presentation and Novel Pathogenic Variants among 68 Chinese Neurofibromatosis 1 Children.

Yao R et al.

Genes, 2019

The primacy of NF1 loss as the driver of tumorigenesis in neurofibromatosis type 1-associated plexiform neurofibromas.

Pemov A et al.

Oncogene, 2017

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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."