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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TBL1XR1

Variant:p.Y395F

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TBL1XR1

NM_024665.7:p.Y395F

hg38:chr3:177034264 T>A

Associated Papers

Phenotypic similarity-based approach for variant prioritization for unsolved rare disease: a preliminary methodological report.

Lagorce D et al.

European Journal of Human Genetics : Ejhg, 2024

37926714 (PubMed )

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