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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RBM45

Variant:p.A177T

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RBM45

NM_152945.4:p.A177T

hg38:chr2:178118160 G>A

Associated Papers

Suspected Mitochondrial Dysfunction and Complex Pathophysiology in Fatal Hypermobile Ehlers-Danlos Syndrome: Insights from a Case Report and Post-Mortem Findings.

Shirvani A et al.

Biomedicines, 2025

40002882 (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."