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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TBL1XR1

Variant:p.V445L

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TBL1XR1

NM_024665.7:p.V445L

hg38:chr3:177033054 C>A

Associated Papers

The spectrum of neurological presentation in individuals affected by TBL1XR1 gene defects.

Nagy A et al.

Orphanet Journal of Rare Diseases, 2024

38378692 (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."