Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.L1848*
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NF1

NM_000267.3:p.L1848*

Associated Papers

Impact of neurofibromatosis type 1 on quality of life using the Skindex-29 questionnaire quality of life in NF1.

Cieza Rivera AM et al.

Orphanet Journal of Rare Diseases, 2024

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

Ognibene M et al.

Cancers, 2023

Risk of Optic Pathway Glioma in Neurofibromatosis Type 1: No Evidence of Genotype-Phenotype Correlations in A Large Independent Cohort.

Melloni G et al.

Cancers, 2019

Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders.

Giugliano T et al.

Genes, 2019

Large number of cutaneous neurofibromas beyond age-appropriate incidence in a patient with a large deletion of NF1.

Yoshida Y et al.

The Journal of Dermatology, 2018

Novel phenotypes of NF1 patients from unrelated Chinese families with tibial pseudarthrosis and anemia.

Banerjee S et al.

Oncotarget, 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."