Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.E1330_S1331delFs
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NF1

NM_001042492.3:p.E1330_S1331delFs

Associated Papers

Germline breast cancer susceptibility genes, tumor characteristics, and survival.

Ho PJ et al.

Genome Medicine, 2021

34857041 (PubMed )
Supplement: 13073_2021_978_MOESM1_ESM.xlsx › sT2

Phenotype categorization of neurofibromatosis type I and correlation to NF1 mutation types.

Kang E et al.

Journal of Human Genetics, 2020

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

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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."