Varaico: Literature-Extracted Genetic Variants

Gene:AMOT
Variant:p.A968_V969del1
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AMOT

NM_001113490.2:p.A968_V969del1

Associated Papers

Distinctive genetic architecture of infantile epileptic spasms syndrome compared to self-limited infantile epilepsy by trios whole-exome sequencing.

Sun Y et al.

Epilepsia Open, 2025

41416966 (PubMed )
Supplement: EPI4-11-280-s001.xlsx › TableS2.de_novo_mutations

Integrated genetic and epigenetic analysis reveals DNA repair alterations in multifocal hepatocellular carcinoma.

Ling YH et al.

Signal Transduction and Targeted Therapy, 2023

37349321 (PubMed )
Supplement: 41392_2023_1446_MOESM2_ESM.xlsx › Sheet_1
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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."