Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.P464fs
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NF1

NM_001042492.3:p.P464fs

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

Accurate Classification of NF1 Gene Variants in 84 Italian Patients with Neurofibromatosis Type 1.

Stella A et al.

Genes, 2018

29673180 (PubMed )
Supplement: genes-09-00216-s001.zip › genes-280238-SI.docx
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