Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.I581insFs
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NF1

NM_001042492.3:p.I581insFs

Associated Papers

Estimated global prevalence of genetic carriers of hereditary pheochromocytoma-paraganglioma syndrome in a large multiethnic genomic database.

Charoenngam N et al.

European Journal of Endocrinology, 2025

40974092 (PubMed )
Supplement: lvaf191_supplementary_data.docx

Comprehensive study of gene fusions in sarcomas.

Chen N et al.

Investigational New Drugs, 2025

Genomic architecture of fetal central nervous system anomalies using whole-genome sequencing.

Yang Y et al.

Npj Genomic Medicine, 2022

Prevalence of cancer susceptibility variants in patients with multiple Lynch syndrome related cancers.

Choi YY et al.

Scientific Reports, 2021

34285288 (PubMed )
Supplement: 41598_2021_94292_MOESM1_ESM.xlsx › Table_S2.

Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype-phenotype correlations.

Zhou WZ et al.

Human Mutation, 2019

30763456 (PubMed )
Supplement: HUMU-40-801-s001.pdf
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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."