Varaico: Literature-Extracted Genetic Variants

Gene:AGTPBP1
Variant:p.K781Splc
Back to variants list

AGTPBP1

NM_001286715.1:p.K781Splc

Associated Papers

Biallelic variants in AGTPBP1, involved in tubulin deglutamylation, are associated with cerebellar degeneration and motor neuropathy.

Sheffer R et al.

European Journal of Human Genetics : Ejhg, 2019

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."