Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.E1436*
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NF1

NM_001042492.3:p.E1436*

Associated Papers

Investigation of PALB2 Mutation and Correlation With Immunotherapy Biomarker in Chinese Non-Small Cell Lung Cancer Patients.

Zhang J et al.

Frontiers in Oncology, 2021

35087742 (PubMed )
Supplement: Table_2.xlsx › Sheet1

Dissecting loss of heterozygosity (LOH) in neurofibromatosis type 1-associated neurofibromas: Importance of copy neutral LOH.

Garcia-Linares C et al.

Human Mutation, 2011

Noonan syndrome and neurofibromatosis type I in a family with a novel mutation in NF1.

Nyström AM et al.

Clinical Genetics, 2009

Identification of forty-five novel and twenty-three known NF1 mutations in Chinese patients with neurofibromatosis type 1.

Lee MJ et al.

Human Mutation, 2006

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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."