Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.P1359delFs
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NF1

NM_001042492.3:p.P1359delFs

Associated Papers

A Translational Approach to Spinal Neurofibromatosis: Clinical and Molecular Insights from a Wide Italian Cohort.

Paterra R et al.

Cancers, 2022

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

Clinical and molecular characterization of neurofibromatosis in southern Brazil.

Rosset C et al.

Expert Review of Molecular Diagnostics, 2018

Characterization of NF1 frameshift mutations in pediatric patients with neurofibromatosis type I.

Villa-Morales J et al.

Genetics and Molecular Research : Gmr, 2015

Clinical experience with pheochromocytoma in a single centre over 16 years.

Cotesta D et al.

High Blood Pressure & Cardiovascular Prevention : the Official Journal of the Italian Society of Hypertension, 2009

Germline NF1 mutational spectra and loss-of-heterozygosity analyses in patients with pheochromocytoma and neurofibromatosis type 1.

Bausch B et al.

The Journal of Clinical Endocrinology and Metabolism, 2007

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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."