Varaico: Literature-Extracted Genetic Variants

Gene:RHOBTB2
Variant:p.R154*
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RHOBTB2

NM_001160036.2:p.R154*

Associated Papers

Arab founder variants: Contributions to clinical genomics and precision medicine.

AlAbdi L et al.

Med (new York, N.y.), 2025

Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.

AlAbdi L et al.

Nature Communications, 2023

Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders.

Langhammer F et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023

Exploiting the Autozygome to Support Previously Published Mendelian Gene-Disease Associations: An Update.

Maddirevula S et al.

Frontiers in Genetics, 2020

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