Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TBCE

Variant:p.L309*

Back to variants list

TBCE

NM_003193.5:p.L309*

hg38:chr1:235436571 T>A

Associated Papers

Expanding TBCE-related phenotype-novel variant causing rigid spine, eosinophilia, neutropenia, and nocturnal hypoxemia.

Badura-Stronka M et al.

Journal of Applied Genetics, 2025

39153170 (PubMed )

Broadening the spectrum phenotype of TBCE-related neuron neurodegeneration.

Battini R et al.

Brain & Development, 2021

34134906 (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."