Varaico: Literature-Extracted Genetic Variants

Gene:ATXN1
Variant:p.Q214H
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ATXN1

NM_001128164.2:p.Q214H

Associated Papers

Different Contribution of Missense and Loss-of-Function Variants to the Genetic Structure of Familial and Sporadic Meniere Disease.

Parra-Perez AM et al.

Medcomm, 2025

40989574 (PubMed )
Supplement: MCO2-6-e70394-s001.xlsx › TableS13

Whole exome sequencing reveals an FCGBP variant associated with spontaneous intraabdominal hemorrhage in severe acute pancreatitis.

Tang QY et al.

Imetaomics, 2025

41675706 (PubMed )
Supplement: IMO2-2-e52-s002.xlsx › 2D

PSEN2 Thr421Met Mutation in a Patient with Early Onset Alzheimer's Disease.

Yang Y et al.

International Journal of Molecular Sciences, 2022

36362122 (PubMed )
Supplement: ijms-23-13331-s001.zip › ijms-1932674-supplementary.pdf

Integrative Analyses Identify Potential Key Genes and Calcium-Signaling Pathway in Familial Atrioventricular Nodal Reentrant Tachycardia Using Whole-Exome Sequencing.

Huang J et al.

Frontiers in Cardiovascular Medicine, 2022

35924220 (PubMed )
Supplement: Table_3.XLS › Supplementary_Table_3_1

Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.

Nagasawa S et al.

Communications Biology, 2021

33795819 (PubMed )
Supplement: 42003_2021_1959_MOESM5_ESM.xlsx › CaseB

Novel NOG (p.P42S) mutation causes proximal symphalangism in a four-generation Chinese family.

Sha Y et al.

Bmc Medical Genetics, 2019

31370824 (PubMed )
Supplement: 12881_2019_864_MOESM2_ESM.xlsx › Sheet1

Genetic Variants Identified from Epilepsy of Unknown Etiology in Chinese Children by Targeted Exome Sequencing.

Wang Y et al.

Scientific Reports, 2017

28074849 (PubMed )
Supplement: srep40319-s4.xls › Sheet1
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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."