Varaico: Literature-Extracted Genetic Variants

Gene:SETX
Variant:p.E813D
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SETX

NM_015046.7:p.E813D

Associated Papers

Genetic findings of children with congenital heart diseases using chromosomal microarray and trio-based whole exome sequencing.

Guo R et al.

Scientific Reports, 2025

40715143 (PubMed )
Supplement: 41598_2025_6977_MOESM2_ESM.xlsx › Sheet1

Presence of Rare Variants is Associated with Poorer Survival in Chinese Patients with Amyotrophic Lateral Sclerosis.

Dong S et al.

Phenomics (cham, Switzerland), 2023

Identification of mutations in Korean patients with amyotrophic lateral sclerosis using multigene panel testing.

Kim HJ et al.

Neurobiology of Aging, 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."