Varaico: Literature-Extracted Genetic Variants

Gene:BUB1
Variant:p.M1R
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BUB1

NM_004336.5:p.M1R

Associated Papers

Rare Variant Burden and Behavioral Phenotypes in Children with Autism in Slovakia.

Repiská G et al.

Genes, 2025

40869941 (PubMed )
Supplement: genes-16-00893-s001.zip › File_S1.xlsx › suplement

Mosaic variegated aneuploidy in development, ageing and cancer.

Malumbres M et al.

Nature Reviews. Genetics, 2024

Biallelic BUB1 mutations cause microcephaly, developmental delay, and variable effects on cohesion and chromosome segregation.

Carvalhal S et al.

Science Advances, 2022

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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."