Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.A1387D
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NF1

NM_000267.3:p.A1387D

Associated Papers

Refined genotype-phenotype correlations in neurofibromatosis type 1 patients with NF1 point variants.

Pacot L et al.

Journal of Medical Genetics, 2025

A model combining clinical and genomic factors to predict response to PD-1/PD-L1 blockade in advanced urothelial carcinoma.

Nassar AH et al.

British Journal of Cancer, 2020

31857723 (PubMed )
Supplement: 41416_2019_686_MOESM1_ESM.xlsx › S2.2_Overall_SNV_small_indels
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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."