Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.Q20_L21Splc
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NF1

NM_001042492.3:p.Q20_L21Splc

Associated Papers

Neurofibromin 1 (NF1) Splicing Mutation c.61-2A>G: From Aberrant mRNA Processing to Therapeutic Implications In Silico.

Blazyte A et al.

International Journal of Molecular Sciences, 2026

Evaluation of somatic mutations in tibial pseudarthrosis samples in neurofibromatosis type 1.

Sant DW et al.

Journal of Medical Genetics, 2015

Neurofibromin deficiency-associated transcriptional dysregulation suggests a novel therapy for tibial pseudoarthrosis in NF1.

Paria N et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2014

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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."