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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ACO1

Variant:p.C50R

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ACO1

NM_002197.3:p.C50R

hg38:chr9:32407311 T>C

Associated Papers

Molecular Phenotypes Segregate Missense Mutations in SLC13A5 Epilepsy.

Jaramillo-Martinez V et al.

Journal of Molecular Biology, 2024

39442909 (PubMed )

Molecular phenotypes segregate missense mutations in SLC13A5 Epilepsy.

Jaramillo-Martinez V et al.

Biorxiv : the Preprint Server for Biology, 2024

38826402 (PubMed )

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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."