Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.Q1754_F1757del4
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NF1

NM_000267.3:p.Q1754_F1757del4

Associated Papers

Clinical characteristics and mutation Spectrum of NF1 in 12 Chinese families with orbital/periorbital plexiform Neurofibromatosis type 1.

Chai P et al.

Bmc Medical Genetics, 2019

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

Confirmation of mutation landscape of NF1-associated malignant peripheral nerve sheath tumors.

Sohier P et al.

Genes, Chromosomes & Cancer, 2017

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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."