Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.E1327*
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NF1

NM_001042492.3:p.E1327*

Associated Papers

Unraveling novel variants in the NF1 gene and investigating potential therapeutic strategies.

Huang J et al.

Scientific Reports, 2025

40617948 (PubMed )
Supplement: 41598_2025_7318_MOESM1_ESM.xlsx › Final_Table

Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.

Chen JL et al.

Annual Review of Genomics and Human Genetics, 2022

36044908 (PubMed )
Supplement: gg23-giannikou_suptable1.xlsx › NF1

Neurofibromatosis type I: mutation spectrum of NF1 in spanish patients.

Palma Milla C et al.

Annals of Human Genetics, 2018

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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."