Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D23
Variant:p.I509Fs
Back to variants list

TBC1D23

NM_001199198.3:p.I509Fs

Associated Papers

Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development.

Ivanova EL et al.

American Journal of Human Genetics, 2017

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."