Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.K233delFs
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NF1

NM_001042492.3:p.K233delFs

Associated Papers

Paired tumor-normal sequencing provides insights into the CDKN2A-associated tumor spectrum.

Breen KE et al.

Npj Precision Oncology, 2025

41258420 (PubMed )
Supplement: 41698_2025_1155_MOESM2_ESM.xlsx › Table_S4-Somatic_Variants

Spectrum of inherited eye disorders at Hong Kong Children's Hospital: insights into the local genetic landscape and experience with ocular genetic services.

Cheng SSW et al.

Hong Kong Medical Journal = Xianggang Yi Xue Za Zhi, 2025

40755077 (PubMed )
Supplement: hkmj2412298-supplementary.pdf

Pathogenic neurofibromatosis type 1 (NF1) RNA splicing resolved by targeted RNAseq.

Koster R et al.

Npj Genomic Medicine, 2021

34782607 (PubMed )
Supplement: 41525_2021_258_MOESM5_ESM.xlsx › replication_raw_data
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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."