Varaico: Literature-Extracted Genetic Variants

Gene:ATRX
Variant:p.N1860S
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ATRX

NM_000489.6:p.N1860S

Associated Papers

Atypical teratoid rhabdoid tumor with extraneural metastases: a case report with genomic analysis.

Yaqoob N et al.

Child's Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery, 2025

Mutation analysis of the TERT gene in ovarian cancer patients of the Turkish population by next generation sequencing method.

Capar Gorali B et al.

Cellular and Molecular Biology (noisy-le-grand, France), 2023

Utilization of cytologic cell blocks for targeted sequencing of solid tumors.

Vormittag-Nocito E et al.

Cancer Medicine, 2023

Clinically relevant glioblastoma patient-derived xenograft models to guide drug development and identify molecular signatures.

Alcaniz J et al.

Frontiers in Oncology, 2023

37114125 (PubMed )
Supplement: Table_1.xlsx › Mutations

The clinical relevance of broad mutational screening of myeloproliferative neoplasms at diagnosis.

Pettersson H et al.

Frontiers in Oncology, 2023

37637067 (PubMed )
Supplement: Table_1.xlsx › Supplementary_table_1

High p16 expression and heterozygous RB1 loss are biomarkers for CDK4/6 inhibitor resistance in ER+ breast cancer.

Palafox M et al.

Nature Communications, 2022

36071033 (PubMed )
Supplement: 41467_2022_32828_MOESM4_ESM.xlsx › Fig_2A_and_Table_S4

A systematic genome-wide mapping of oncogenic mutation selection during CRISPR-Cas9 genome editing.

Sinha S et al.

Nature Communications, 2021

34764240 (PubMed )
Supplement: 41467_2021_26788_MOESM14_ESM.zip › Source_Data › Source_Data_Figure_1-6.xlsx › Figure_6F

Machine Learning-Based Approach Highlights the Use of a Genomic Variant Profile for Precision Medicine in Ovarian Failure.

Henarejos-Castillo I et al.

Journal of Personalized Medicine, 2021

34199109 (PubMed )
Supplement: jpm-11-00609-s001.zip › jpm-1233323-supplementary.pdf

Telomere alterations in neurofibromatosis type 1-associated solid tumors.

Rodriguez FJ et al.

Acta Neuropathologica Communications, 2019

31462295 (PubMed )
Supplement: 40478_2019_792_MOESM1_ESM.pdf

Subependymal giant cell astrocytoma-like astrocytoma: a neoplasm with a distinct phenotype and frequent neurofibromatosis type-1-association.

Palsgrove DN et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2018

Genomic characterization of chromosome translocations in patients with T/myeloid mixed-phenotype acute leukemia.

Pallavajjala A et al.

Leukemia & Lymphoma, 2018

Whole-exome sequencing identifies germline mutation in TP53 and ATRX in a child with genomically aberrant AT/RT and her mother with anaplastic astrocytoma.

Nordfors K et al.

Cold Spring Harbor Molecular Case Studies, 2018

Mutations in the DNA methylation pathway and number of driver mutations predict response to azacitidine in myelodysplastic syndromes.

Cedena MT et al.

Oncotarget, 2017

29291002 (PubMed )
Supplement: oncotarget-08-106948-s002.xls › Hoja1

Patient-specific molecular alterations are associated with metastatic clear cell renal cell cancer progressing under tyrosine kinase inhibitor therapy.

Dietz S et al.

Oncotarget, 2017

29088767 (PubMed )
Supplement: oncotarget-08-74049-s002.xlsx › Patient_3_-_Progress

Architectural and functional heterogeneity of hematopoietic stem/progenitor cells in non-del(5q) myelodysplastic syndromes.

Chesnais V et al.

Blood, 2017

Identification of epigenetic signature associated with alpha thalassemia/mental retardation X-linked syndrome.

Schenkel LC et al.

Epigenetics & Chromatin, 2017

Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Bodian DL et al.

Plos One, 2014

24728327 (PubMed )
Supplement: pone.0094554.s002.xlsx › Table_S1

MED12 related disorders.

Graham JM et al.

American Journal of Medical Genetics. Part A, 2013

Determination of IDH1, IDH2, MGMT, TERT and ATRX Gene Mutations in Glial Tumors.

Yaltirik CK et al.

In Vivo (athens, Greece), 0

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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."