Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.K1290_V1291Splc
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NF1

NM_001042492.3:p.K1290_V1291Splc

Associated Papers

Next-generation variant exon screening: Moving forward in routine genetic disease investigations.

Wang C et al.

Genetics in Medicine Open, 2024

39669605 (PubMed )
Supplement: mmc1.pdf

Brainstem Glioblastoma Multiforme in a Patient with NF1.

Fortunato JT et al.

Anticancer Research, 2018

Prolonged disease control with MEK inhibitor in neurofibromatosis type I-associated glioblastoma.

Ameratunga M et al.

Journal of Clinical Pharmacy and Therapeutics, 2016

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

Laycock-van Spyk S et al.

Human Genomics, 2011

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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."