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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BHLHA9

Variant:p.S102Y

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BHLHA9

NM_001164405.2:p.S102Y

hg38:chr17:1270868 C>A

Associated Papers

Utility of Optical Genome Mapping for Accurate Detection and Fine-Mapping of Structural Variants in Elusive Rare Diseases.

Orellana C et al.

International Journal of Molecular Sciences, 2025

39941010 (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."