Varaico: Literature-Extracted Genetic Variants

Gene:H3-3A
Variant:p.R84C
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H3-3A

NM_002107.7:p.R84C

Associated Papers

Rapid intraoperative amplicon sequencing of CNS tumor markers.

Evers M et al.

Computational and Structural Biotechnology Journal, 2024

39606159 (PubMed )
Supplement: mmc1.docx

Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.

Layo-Carris DE et al.

European Journal of Human Genetics : Ejhg, 2024

38678163 (PubMed )
Supplement: 41431_2024_1610_MOESM3_ESM.xlsx › Main_sheet

A Custom DNA-Based NGS Panel for the Molecular Characterization of Patients With Diffuse Gliomas: Diagnostic and Therapeutic Applications.

Tirrò E et al.

Frontiers in Oncology, 2022

Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients.

Bryant L et al.

Science Advances, 2020

33268356 (PubMed )
Supplement: abc9207_Table_S1.xlsx › Sheet1

Clinicopathological and genetic association between epithelioid glioblastoma and pleomorphic xanthoastrocytoma.

Furuta T et al.

Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2018

Biomarker-based prognostic stratification of young adult glioblastoma.

Zhang RQ et al.

Oncotarget, 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."