Varaico: Literature-Extracted Genetic Variants

Gene:BOD1
Variant:p.R112*
Back to variants list

BOD1

NM_138369.3:p.R112*

Associated Papers

A busy BOD1-y: the diverse functions of an intracellular signaling regulatory protein family.

Kucharski TJ et al.

Biochemical Society Transactions, 2025

Protein Phosphatase 2A (PP2A) mutations in brain function, development, and neurologic disease.

Verbinnen I et al.

Biochemical Society Transactions, 2021

A homozygous stop gain mutation in BOD1 gene in a Lebanese patient with syndromic intellectual disability.

Hamdan N et al.

Clinical Genetics, 2020

BOD1 Is Required for Cognitive Function in Humans and Drosophila.

Esmaeeli-Nieh S et al.

Plos Genetics, 2016

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."