Varaico: Literature-Extracted Genetic Variants

Gene:ABI1
Variant:p.R106*
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ABI1

NM_001012750.3:p.R106*

Associated Papers

The WAVE complex in developmental and adulthood brain disorders.

Kim HG et al.

Experimental & Molecular Medicine, 2025

Systems Analysis Implicates WAVE2 Complex in the Pathogenesis of Developmental Left-Sided Obstructive Heart Defects.

Edwards JJ et al.

Jacc. Basic to Translational Science, 2020

Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples.

Kosmicki JA et al.

Nature Genetics, 2017

28191890 (PubMed )
Supplement: NIHMS845776-supplement-5.xlsx › Congenital_Heart_Disease
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