Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.E244Splc
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NF1

NM_001042492.3:p.E244Splc

Associated Papers

Clinical Presentation and Novel Pathogenic Variants among 68 Chinese Neurofibromatosis 1 Children.

Yao R et al.

Genes, 2019

31717729 (PubMed )
Supplement: genes-10-00847-s001.zip › genes-555298-supplementary.xlsx › NF1_gene_positve

A highly sensitive genetic protocol to detect NF1 mutations.

Valero MC et al.

The Journal of Molecular Diagnostics : Jmd, 2011

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