Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.D1828Y
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NF1

NM_000267.3:p.D1828Y

Associated Papers

Functional Assays Combined with Pre-mRNA-Splicing Analysis Improve Variant Classification and Diagnostics for Individuals with Neurofibromatosis Type 1 and Legius Syndrome.

Douben H et al.

Human Mutation, 2023

Clinically actionable cancer somatic variants (CACSV): a tumor interpreted dataset for analytical workflows.

Sobahy TM et al.

Bmc Medical Genomics, 2022

35468810 (PubMed )
Supplement: 12920_2022_1235_MOESM3_ESM.xlsx › OncoKB_unspecified-alterations.

Characterizing temporal genomic heterogeneity in pediatric high-grade gliomas.

Salloum R et al.

Acta Neuropathologica Communications, 2017

29084603 (PubMed )
Supplement: 40478_2017_479_MOESM2_ESM.xlsx › HGG11
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