Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.R720Q
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NF1

NM_001042492.3:p.R720Q

Associated Papers

Longitudinal Glioma Monitoring via Cerebrospinal Fluid Cell-Free DNA.

Riviere-Cazaux C et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025

39715486 (PubMed )
Supplement: ccr-24-1814_supplemental_table_2_suppts2.xlsx › Sheet1

Clinical relevance of pathogenic germline variants in mismatch repair genes in Chinese breast cancer patients.

Hu L et al.

Npj Breast Cancer, 2022

35449176 (PubMed )
Supplement: 41523_2022_417_MOESM3_ESM.xlsx › Sheet1

Thyroid nodules in xeroderma pigmentosum patients: a feature of premature aging.

Kouatcheu SD et al.

Journal of Endocrinological Investigation, 2021

Development and validation of a multigene variant profiling assay to guide targeted and immuno therapy selection in solid tumors.

Akolkar D et al.

Plos One, 2021

33556149 (PubMed )
Supplement: pone.0246048.s008.xlsx › Sheet1

The Genomic Landscape of Serrated Lesion of the Colorectum: Similarities and Differences With Tubular and Tubulovillous Adenomas.

Tornillo L et al.

Frontiers in Oncology, 2021

34712603 (PubMed )
Supplement: Table_2.xlsx › mutation_summary

In-silico Analysis of NF1 Missense Variants in ClinVar: Translating Variant Predictions into Variant Interpretation and Classification.

Accetturo M et al.

International Journal of Molecular Sciences, 2020

31979111 (PubMed )
Supplement: ijms-21-00721-s001.zip › ijms-614345-supplementary_files › Supplementary_Table_S3.xlsx › Suppl._Table_S3

Analysis of CpG C-to-T mutations in neurofibromatosis type 1. Mutations in brief no. 129. Online.

Krkljus S et al.

Human Mutation, 1998

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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."