Varaico: Literature-Extracted Genetic Variants

Gene:TBL1XR1
Variant:p.S326I
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TBL1XR1

NM_024665.7:p.S326I

Associated Papers

A novel de novo pathogenic variant in TBL1XR1 as a new proposed cause of Pierpont syndrome.

Tamma PL et al.

American Journal of Medical Genetics. Part A, 2023

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