Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.Y49*
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NF1

NM_001042492.3:p.Y49*

Associated Papers

Overlapping Presentations and Diverse Genetic Defects Characterize Neuroendocrine Neoplasms in a Mexican Cohort.

Hernández-Ramírez LC et al.

The Journal of Clinical Endocrinology and Metabolism, 2025

Association of pituitary neuroendocrine tumors and neurofibromatosis type 1: assessing causation versus coincidence. Case report.

Aguilar-Soto M et al.

Frontiers in Endocrinology, 2025

Distinct Genomic Profiles Are Associated with Treatment Response and Survival in Ovarian Cancer.

de Witte CJ et al.

Cancers, 2022

35326660 (PubMed )
Supplement: cancers-14-01511-s001.zip › Supplemenatry_Tables_1_to_8.xlsx › TableS7_Actionability

Actionable Molecular Alterations Are Revealed in Majority of Advanced Non-Small Cell Lung Cancer Patients by Genomic Tumor Profiling at Progression after First Line Treatment.

Frank MS et al.

Cancers, 2021

35008297 (PubMed )
Supplement: cancers-14-00132-s001.zip › Supplementary_Table_S1.xlsx › Overview_ver2

A highly sensitive genetic protocol to detect NF1 mutations.

Valero MC et al.

The Journal of Molecular Diagnostics : Jmd, 2011

Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain.

Fahsold R et al.

American Journal of Human Genetics, 2000

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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."