Varaico: Literature-Extracted Genetic Variants

Gene:ATXN1
Variant:p.Q216ins1
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ATXN1

NM_001128164.2:p.Q216ins1

Associated Papers

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

RET c.1901G>A and Novel SLC12A3 Mutations in Familial Pheochromocytomas

Zhao L et al.

Genes, 2022

35627249 (PubMed )
Supplement: genes-13-00864-s001.zip › Supplementary_Material_S1.The_information_of_annotated_gene_mutations1.xlsx › ___

Identification of recurrent USP48 and BRAF mutations in Cushing's disease.

Chen J et al.

Nature Communications, 2018

30093687 (PubMed )
Supplement: 41467_2018_5275_MOESM4_ESM.xlsx › ____2_
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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."