Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.E91*
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NF1

NM_001042492.3:p.E91*

Associated Papers

RNA-SSNV: A Reliable Somatic Single Nucleotide Variant Identification Framework for Bulk RNA-Seq Data.

Long Q et al.

Frontiers in Genetics, 2022

35846154 (PubMed )
Supplement: Table3.XLSX › LUSC_RNA_DNA_overlap

Neurofibromatosis type 1-associated tumours: their somatic mutational spectrum and pathogenesis.

Laycock-van Spyk S et al.

Human Genomics, 2011

Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11-17 distinct from the GAP related domain.

Mattocks C et al.

Journal of Medical Genetics, 2004

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