Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.D186Y
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NF1

NM_001042492.3:p.D186Y

Associated Papers

Somatic mutations in Middle East and North Africa breast cancer patients: a systematic review.

Abujamous L et al.

The Oncologist, 2025

40665690 (PubMed )
Supplement: oyaf205_supplementary_data.zip › SupplementaryTable3.xlsx › SupplementaryTable3

An Analysis of Genetic Polymorphisms in 76 Genes Related to the Development of Ovarian Tumors of Different Aggressiveness.

Szafron LA et al.

International Journal of Molecular Sciences, 2024

39456660 (PubMed )
Supplement: ijms-25-10876-s001.zip › Supplement-variants.xlsx › Hot.spot.panel.SNP_all_variants

Biomarker Landscape in RASopathies.

Ferrito N et al.

International Journal of Molecular Sciences, 2024

39201250 (PubMed )
Supplement: ijms-25-08563-s001.zip › ijms-3118150-supplementary.pdf

Sensitive Detection of Cell-Free Tumour DNA Using Optimised Targeted Sequencing Can Predict Prognosis in Gastro-Oesophageal Cancer.

Wallander K et al.

Cancers, 2023

36831507 (PubMed )
Supplement: cancers-15-01160-s001.zip › TableS7.xlsx › Sheet1

Corrigendum: Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing.

Keegan NP et al.

Frontiers in Genetics, 2022

35754842 (PubMed )
Supplement: DataSheet1.xlsx › Table_S1

Pathogenic neurofibromatosis type 1 (NF1) RNA splicing resolved by targeted RNAseq.

Koster R et al.

Npj Genomic Medicine, 2021

Landscape of somatic mutations in breast cancer: new opportunities for targeted therapies in Saudi Arabian patients.

Barakeh DH et al.

Oncotarget, 2021

33868589 (PubMed )
Supplement: oncotarget-12-686-s002.xlsx › Sheet1

Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing.

Keegan NP et al.

Frontiers in Genetics, 2021

35140743 (PubMed )
Supplement: DataSheet1.xlsx › Table_S1

The spectrum of somatic and germline NF1 mutations in NF1 patients with spinal neurofibromas.

Upadhyaya M et al.

Neurogenetics, 2009

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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."