Varaico: Literature-Extracted Genetic Variants

Gene:GBA1
Variant:p.T75P
Back to variants list

GBA1

NM_000157.4:p.T75P

Associated Papers

Biochemical analysis of mutations in palmitoyl-protein thioesterase causing infantile and late-onset forms of neuronal ceroid lipofuscinosis.

Das AK et al.

Human Molecular Genetics, 2001

Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits.

Mitchison HM et al.

Human Molecular Genetics, 1998

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."