Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TBCB

Variant:p.S110T

Back to variants list

TBCB

NM_001281.3:p.S110T

hg38:chr19:36120779 T>A

Associated Papers

De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures.

Horn S et al.

Brain : a Journal of Neurology, 2019

31504246 (PubMed )

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."