Varaico: Literature-Extracted Genetic Variants

Gene:SETX
Variant:p.E1770fs
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SETX

NM_015046.7:p.E1770fs

Associated Papers

Germline predisposition in multiple myeloma.

Martins Rodrigues F et al.

Iscience, 2025

39845416 (PubMed )
Supplement: mmc3.xlsx › ST2D.Vars_in_all_genes_MMRF

A systematic review and functional in-silico analysis of genes and variants associated with amyotrophic lateral sclerosis.

Arreola-Aldape CA et al.

Frontiers in Neuroscience, 2025

40589786 (PubMed )
Supplement: Table_4.xlsx › ClinVar_filtered_variants

Genetic Investigation of Consanguineous Pakistani Families Segregating Rare Spinocerebellar Disorders.

Saadi SM et al.

Genes, 2023

The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.

Monies D et al.

Human Genetics, 2017

28600779 (PubMed )
Supplement: 439_2017_1821_MOESM1_ESM.xlsx › Sheet2

Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients.

Anheim M et al.

Brain : a Journal of Neurology, 2009

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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."