Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.T1951insFs
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NF1

NM_000267.3:p.T1951insFs

Associated Papers

Long-read sequencing for NF1 gene analysis: enhancing diagnostic accuracy for Neurofibromatosis type 1.

Zheng Y et al.

Human Molecular Genetics, 2025

40719757 (PubMed )
Supplement: supplemental-tabless1-4_clean_ddaf108.xlsx › Table-S1-All_samples

Tumor DNA from tumor in situ fluid was used to track evolution of glioma under first-line treatment.

Yu J et al.

Frontiers in Oncology, 2025

41179686 (PubMed )
Supplement: Table3.xls › Mutations_in_35d_TISF

Performance Evaluation of SpliceAI for the Prediction of Splicing of NF1 Variants.

Ha C et al.

Genes, 2021

34573290 (PubMed )
Supplement: genes-12-01308-s001.zip › Table_S1.xlsx › NF1_Variants

Risk of Optic Pathway Glioma in Neurofibromatosis Type 1: No Evidence of Genotype-Phenotype Correlations in A Large Independent Cohort.

Melloni G et al.

Cancers, 2019

The genomic landscape of juvenile myelomonocytic leukemia.

Stieglitz E et al.

Nature Genetics, 2015

26457647 (PubMed )
Supplement: NIHMS716600-supplement-1.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."