Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.E1816_C1817insFs
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NF1

NM_001042492.3:p.E1816_C1817insFs

Associated Papers

Gross deletions of the neurofibromatosis type 1 (NF1) gene are predominantly of maternal origin and commonly associated with a learning disability, dysmorphic features and developmental delay.

Upadhyaya M et al.

Human Genetics, 1998

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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."