Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.N994delFs
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NF1

NM_001042492.3:p.N994delFs

Associated Papers

Genotype-phenotype correlation in neurofibromatosis type-1: NF1 whole gene deletions lead to high tumor-burden and increased tumor-growth.

Well L et al.

Plos Genetics, 2021

33951044 (PubMed )
Supplement: pgen.1009517.s002.xlsx › Tabelle1

Genetic diagnosis of neurofibromatosis type 1: targeted next- generation sequencing with Multiple Ligation-Dependent Probe Amplification analysis.

Wu-Chou YH et al.

Journal of Biomedical Science, 2018

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