Varaico: Literature-Extracted Genetic Variants

Gene:ACO1
Variant:p.D29Y
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ACO1

NM_002197.3:p.D29Y

Associated Papers

Genomic variants exclusively identified in children with birth defects and concurrent malignant tumors predispose to cancer development.

Liu Y et al.

Molecular Cancer, 2023

37543594 (PubMed )
Supplement: 12943_2023_1828_MOESM2_ESM.xlsx › suppplementaryTable_1A

Molecular networks of hepatoblastoma predisposition and oncogenesis in Beckwith-Wiedemann syndrome.

Sobel Naveh NS et al.

Hepatology Communications, 2022

35507738 (PubMed )
Supplement: HEP4-6-2132-s005.xlsx › Supplemental_Table_1.

Family-based whole-exome sequencing identifies rare variants potentially related to cutaneous melanoma predisposition in Brazilian melanoma-prone families.

Fidalgo F et al.

Plos One, 2022

35085295 (PubMed )
Supplement: pone.0262419.s002.xlsx › 288_candidate_variants

Predicted loss and gain of function mutations in ACO1 are associated with erythropoiesis.

Oskarsson GR et al.

Communications Biology, 2020

32327693 (PubMed )
Supplement: 42003_2020_921_MOESM2_ESM.xlsx › Supplementary_Data_4
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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."