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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BAAT

Variant:p.R130insFs

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BAAT

NM_001701.4:p.R130insFs

hg38:chr9:101371016 C>CT

Associated Papers

Identification of a novel BAAT frameshift mutation in a female child diagnosed with skeletal dysplasia: A case report.

Nguyen DQ et al.

Medicine, 2024

39252318 (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."