Varaico: Literature-Extracted Genetic Variants

Gene:EZH1
Variant:p.Q571R
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EZH1

NM_001991.5:p.Q571R

Associated Papers

Biallelic loss-of-function variants of EZH1 cause a novel developmental disorder with central precocious puberty.

Okamoto N et al.

American Journal of Medical Genetics. Part A, 2024

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

A Combination of BRAF and EZH1/SPOP/ZNF148 Three-Gene Mutational Classifier Improves Benign Call Rate in Indeterminate Thyroid Nodules.

Xu S et al.

Endocrine Pathology, 2023

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

Unraveling the significance of TSHR mutations in indeterminate thyroid cytology specimens.

Andrianus S et al.

Diagnostic Cytopathology, 2023

Locally invasive classical papillary thyroid carcinoma with TSH receptor I568T mutation: case report.

Nguyen J et al.

Endocrinology, Diabetes & Metabolism Case Reports, 2022

Outcome and molecular characteristics of non-invasive encapsulated follicular variant of papillary thyroid carcinoma with oncocytic features.

Xu B et al.

Endocrine, 2019

Genomic Characterization of Differentiated Thyroid Carcinoma.

Song YS et al.

Endocrinology and Metabolism (seoul, Korea), 2019

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

Jung CK et al.

Human Pathology, 2018

Cancer risk and clinicopathological characteristics of thyroid nodules harboring thyroid-stimulating hormone receptor gene mutations.

Mon SY et al.

Diagnostic Cytopathology, 2018

Molecular pathology of thyroid tumours of follicular cells: a review of genetic alterations and their clinicopathological relevance.

Acquaviva G et al.

Histopathology, 2018

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

Ye L et al.

Nature Communications, 2017

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

Jung SH et al.

Oncotarget, 2016

Recurrent EZH1 mutations are a second hit in autonomous thyroid adenomas.

Calebiro D et al.

The Journal of Clinical Investigation, 2016

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

Yoo SK et al.

Plos Genetics, 2016

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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."