Varaico: Literature-Extracted Genetic Variants

Gene:EZH1
Variant:p.Y642F
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EZH1

NM_001991.5:p.Y642F

Associated Papers

Small Multi-Gene DNA Panel Can Aid in Reducing the Surgical Resection Rate and Predicting the Malignancy Risk of Thyroid Nodules.

Oh MY et al.

Endocrinology and Metabolism (seoul, Korea), 2024

Molecular testing raises thyroid nodule fine needle aspiration diagnostic value.

Han D et al.

Endocrine Connections, 2023

Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders.

Gracia-Diaz C et al.

Nature Communications, 2023

Integrated Whole-Exome and Transcriptome Sequencing of Sporadic Parathyroid Adenoma.

Hu Y et al.

Frontiers in Endocrinology, 2021

Genomic Characterization of Differentiated Thyroid Carcinoma.

Song YS et al.

Endocrinology and Metabolism (seoul, Korea), 2019

Analytical and Clinical Validation of Expressed Variants and Fusions From the Whole Transcriptome of Thyroid FNA Samples.

Angell TE et al.

Frontiers in Endocrinology, 2019

Clinical utility of EZH1 mutations in the diagnosis of follicular-patterned thyroid tumors.

Jung CK et al.

Human Pathology, 2018

The genetic landscape of benign thyroid nodules revealed by whole exome and transcriptome sequencing.

Ye L et al.

Nature Communications, 2017

28580939 (PubMed )
Supplement: ncomms15533-s11.pdf

Mutational burdens and evolutionary ages of thyroid follicular adenoma are comparable to those of follicular carcinoma.

Jung SH et al.

Oncotarget, 2016

Comprehensive Analysis of the Transcriptional and Mutational Landscape of Follicular and Papillary Thyroid Cancers.

Yoo SK et al.

Plos Genetics, 2016

The diagnostic application of RNA sequencing in patients with thyroid cancer: an analysis of 851 variants and 133 fusions in 524 genes.

Pagan M et al.

Bmc Bioinformatics, 2016

26818556 (PubMed )
Supplement: 12859_2015_849_MOESM3_ESM.pdf
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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."