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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ACAN

Variant:p.A289T

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ACAN

NM_001369268.1:p.A289T

hg38:chr15:88843462 G>A

Associated Papers

Diseases Caused by Mutations in Mitochondrial Carrier Genes SLC25: A Review.

Palmieri F et al.

Biomolecules, 2020

32340404 (PubMed )

Supplement: biomolecules-10-00655-s001.pdf

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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."