Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.L1326fs
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NF1

NM_001042492.3:p.L1326fs

Associated Papers

Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.

Chen JL et al.

Annual Review of Genomics and Human Genetics, 2022

36044908 (PubMed )
Supplement: gg23-giannikou_suptable1.xlsx › NF1

Targeted exon skipping of NF1 exon 17 as a therapeutic for neurofibromatosis type I.

Leier A et al.

Molecular Therapy. Nucleic Acids, 2022

35433111 (PubMed )
Supplement: mmc1.pdf
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