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Article

Recurrent NF1 gene variants and their genotype/phenotype correlations in patients with Neurofibromatosis type I.

Genes, chromosomes & cancer - 1 Jan 2022

Riva Matteo, Martorana Davide, Uliana Vera, Caleffi Edoardo, Boschi Elena, Garavelli Livia, Ponti Giovanni, Sangiorgi Luca, Graziano Claudio, Bigoni Stefania, Rocchetti Luca Maria, Madeo Simona, Soli Fiorenza, Grosso Enrico, Carli Diana, Goldoni Matteo, Pisani Francesco, Percesepe Antonio

Abstract excerpt

Neurofibromatosis type I, a genetic condition due to pathogenic variants in the NF1 gene, is burdened by a high rate of complications, including neoplasms, which increase morbidity and mortality for the disease. We retrospectively re-evaluated the NF1 gene variants found in the period 2000-2019 and we studied for genotype/phenotype correlations of disease complications and neoplasms 34 variants, which were shared...

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Identifiers

PMID: 34427956
DOI: 10.1002/gcc.22997
PMCID: PMC9291954

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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