Varaico: Literature-Extracted Genetic Variants

Gene:ALDOB
Variant:p.K230delFs
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ALDOB

NM_000035.4:p.K230delFs

Associated Papers

Estimation of hereditary fructose intolerance prevalence in the Chinese population.

Tang M et al.

Orphanet Journal of Rare Diseases, 2022

36028839 (PubMed )
Supplement: 13023_2022_2487_MOESM1_ESM.xlsx › TableS1

Hereditary fructose intolerance: A comprehensive review.

Singh SK et al.

World Journal of Clinical Pediatrics, 2022

Epidemiological aspects of hereditary fructose intolerance: A database study.

Pinheiro FC et al.

Human Mutation, 2021

Molecular Diagnosis of Hereditary Fructose Intolerance: Founder Mutation in a Community from India.

Bijarnia-Mahay S et al.

Jimd Reports, 2015

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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."