Varaico: Literature-Extracted Genetic Variants

Gene:SATL1
Variant:p.Y601*
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SATL1

NM_001367857.2:p.Y601*

Associated Papers

Structural Insights into the Mechanisms Underlying Polyaminopathies.

Wu B et al.

International Journal of Molecular Sciences, 2024

Loss-of-function variant in spermidine/spermine N1-acetyl transferase like 1 (SATL1) gene as an underlying cause of autism spectrum disorder.

Alayoubi AM et al.

Scientific Reports, 2024

A homozygous stop codon in HORMAD2 in a patient with recurrent digynic triploid miscarriage.

Liang M et al.

Molecular Genetics & Genomic Medicine, 2024

38400599 (PubMed )
Supplement: MGG3-12-e2402-s001.pdf

Integrative analysis of mutational and transcriptional profiles reveals driver mutations of metastatic breast cancers.

Lee JH et al.

Cell Discovery, 2016

27625789 (PubMed )
Supplement: celldisc201625-s8.pdf
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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."