Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.K2252_A2253Splc
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NF1

NM_000267.3:p.K2252_A2253Splc

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

Genetic Analyses of the NF1 Gene in Turkish Neurofibromatosis Type I Patients and Definition of three Novel Variants.

Ulusal SD et al.

Balkan Journal of Medical Genetics : Bjmg, 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."