Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.K1423_I1424Splc
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NF1

NM_000267.3:p.K1423_I1424Splc

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

Identification of a missense mutation causing exon skipping in a neurofibromatosis type 1 patient.

Fu Y et al.

The Journal of Dermatology, 2018

Identification of Mutation Regions on NF1 Responsible for High- and Low-Risk Development of Optic Pathway Glioma in Neurofibromatosis Type I.

Xu M et al.

Frontiers in Genetics, 2018

30087692 (PubMed )
Supplement: Table_1.XLSX › ____
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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."