Varaico: Literature-Extracted Genetic Variants

Gene:TBR1
Variant:p.Y553fs
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TBR1

NM_006593.4:p.Y553fs

Associated Papers

Recurrent TBR1-related developmental disorder in a Chinese family caused by a low-level mosaic parent.

Zhen L et al.

European Journal of Obstetrics, Gynecology, and Reproductive Biology, 2026

Novel TBR1 c.1303C>T Variant Led to Diagnosis of Intellectual Developmental Disorder with Autism and Speech Delay: Application of Comprehensive Family-Based Whole-Genome Analysis.

Ćuk M et al.

Genes, 2025

Whole-exome sequencing identified five novel de novo variants in patients with unexplained intellectual disability.

Zhang W et al.

Journal of Clinical Laboratory Analysis, 2022

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