Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.S488delFs
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NF1

NM_001042492.3:p.S488delFs

Associated Papers

Risk of Optic Pathway Glioma in Neurofibromatosis Type 1: No Evidence of Genotype-Phenotype Correlations in A Large Independent Cohort.

Melloni G et al.

Cancers, 2019

Patterns of Novel Alleles and Genotype/Phenotype Correlations Resulting from the Analysis of 108 Previously Undetected Mutations in Patients Affected by Neurofibromatosis Type I.

Bonatti F et al.

International Journal of Molecular Sciences, 2017

28961165 (PubMed )
Supplement: ijms-18-02071-s001.pdf
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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."