Varaico: Literature-Extracted Genetic Variants

Gene:ACSF3
Variant:p.W230*
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ACSF3

NM_001243279.3:p.W230*

Associated Papers

Pathogenic variants prevalence patients with diabetic kidney disease in Japan: A descriptive study.

Hashiba T et al.

Journal of Diabetes Investigation, 2025

Combined Malonic and Methylmalonic Aciduria Diagnosed by Recurrent and Severe Infections Mimicking a Primary Immunodeficiency Disease: A Case Report.

Lee JK et al.

Journal of Korean Medical Science, 2023

Mutation Analysis of Autosomal-Dominant Polycystic Kidney Disease Patients.

Suzuki Y et al.

Genes, 2023

36833371 (PubMed )
Supplement: genes-14-00443-s001.zip › genes-2152850-supplementary.xlsx › Table_S6

Combined Malonic and Methylmalonic Aciduria Due to ACSF3 Variants Results in Benign Clinical Course in Three Chinese Patients.

Wang P et al.

Frontiers in Pediatrics, 2021

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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."