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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ALDH1B1

Variant:p.R390R

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ALDH1B1

NM_000692.5:p.R390R

hg38:chr9:38396918 T>A

Associated Papers

Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.

Calvo SE et al.

Science Translational Medicine, 2012

22277967 (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."