Varaico: Literature-Extracted Genetic Variants

Gene:H3-3B
Variant:p.L61R
Back to variants list

H3-3B

NM_005324.5:p.L61R

Associated Papers

Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.

Layo-Carris DE et al.

European Journal of Human Genetics : Ejhg, 2024

38678163 (PubMed )
Supplement: 41431_2024_1610_MOESM3_ESM.xlsx › Main_sheet

Trapping of yFACT at 3' ends of genes is not a universal characteristic of yeast versions of Bryant-Li-Bhoj syndrome histone H3 mutants.

Beard JS et al.

Micropublication Biology, 2024

Dominant effects of the histone mutant H3-L61R on Spt16-gene interactions in budding yeast.

Pablo-Kaiser A et al.

Epigenetics, 2022

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."