Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.S1270_L1274delFs
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NF1

NM_001042492.3:p.S1270_L1274delFs

Associated Papers

Preimplantation genetic testing for neurofibromatosis type 1: molecular genetic aspects and impact on reproductive counseling.

Vernimmen V et al.

Human Reproduction (oxford, England), 2026

41289058 (PubMed )
Supplement: deaf224_supplementary_table_s1.pdf

A Comprehensive Overview of NF1 Mutations in Iranian Patients.

Savad S et al.

Neuromolecular Medicine, 2024

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

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

Villa-Morales J et al.

Genetics and Molecular Research : Gmr, 2015

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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."