Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.E547_A548Splc
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NF1

NM_001042492.3:p.E547_A548Splc

Associated Papers

Homozygous inactivation of NF1 gene in a patient with familial NF1 and disseminated neuroblastoma.

Origone P et al.

American Journal of Medical Genetics. Part A, 2003

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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."