Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.L578R
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NF1

NM_001042492.3:p.L578R

Associated Papers

Subtype distribution, clinical presentation, and molecular spectrum of neurofibromatosis type 1-associated breast cancer.

Di Giosaffatte N et al.

Breast (edinburgh, Scotland), 2025

[Identification of a novel NF1 mutation in a Chinese family affected with neurofibromatosis type I].

Zhang Q et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2019

Germline and Somatic NF1 Alterations Are Linked to Increased HER2 Expression in Breast Cancer.

Wang X et al.

Cancer Prevention Research (philadelphia, Pa.), 2018

Breast cancer risk and germline genomic profiling of women with neurofibromatosis type 1 who developed breast cancer.

Wang X et al.

Genes, Chromosomes & Cancer, 2018

The natural history of spinal neurofibromatosis: a critical review of clinical and genetic features.

Ruggieri M et al.

Clinical Genetics, 2015

Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.

Kiel C et al.

Molecular Systems Biology, 2014

24803665 (PubMed )
Supplement: MSB-10-5-727-s13.xls › energies

Mutation spectrum of NF1 and clinical characteristics in 78 Korean patients with neurofibromatosis type 1.

Ko JM et al.

Pediatric Neurology, 2013

NF1 mutations and clinical spectrum in patients with spinal neurofibromas.

Kluwe L et al.

Journal of Medical Genetics, 2003

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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."