Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.N78fs
Back to variants list

NF1

NM_001042492.3:p.N78fs

Associated Papers

Immortalization and characterization of Schwann cell lines derived from NF1-associated cutaneous neurofibromas.

Li H et al.

Plos One, 2026

41564118 (PubMed )
Supplement: pone.0340183.s017.pdf

Clinical and genomic features of Lynch syndrome differ by tumor site and disease spectrum.

Li S et al.

Nature Communications, 2025

41261115 (PubMed )
Supplement: 41467_2025_65164_MOESM6_ESM.xlsx › Figure_3A

Single-cell DNA and surface protein characterization of high hyperdiploid acute lymphoblastic leukemia at diagnosis and during treatment.

Aertgeerts M et al.

Hemasphere, 2025

39944233 (PubMed )
Supplement: HEM3-9-e70085-s003.xlsx › XI145

A Comprehensive Overview of NF1 Mutations in Iranian Patients.

Savad S et al.

Neuromolecular Medicine, 2024

Establishment and validation of preclinical models of SMARCA4-inactivated and ARID1A/ARID1B co-inactivated dedifferentiated endometrial carcinoma.

Wong NKY et al.

Gynecologic Oncology, 2023

Mutational spectrum and prognosis in Chinese patients with prefibrotic primary myelofibrosis.

Cheng CK et al.

Ejhaem, 2022

35846205 (PubMed )
Supplement: JHA2-3-184-s002.xlsx › All_MPN_cases

Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing.

Southey MC et al.

Npj Breast Cancer, 2021

34887416 (PubMed )
Supplement: 41523_2021_360_MOESM1_ESM.pdf

Clinical and molecular characterization of neurofibromatosis in southern Brazil.

Rosset C et al.

Expert Review of Molecular Diagnostics, 2018

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."