Varaico: Literature-Extracted Genetic Variants

Gene:SETX
Variant:p.M1169V
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SETX

NM_015046.7:p.M1169V

Associated Papers

Diagnostic Yield and Genetic Burden Analysis of Frequently Mutated Genes in Progressive Ataxia.

Sharma P et al.

Annals of Indian Academy of Neurology, 2025

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
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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."