Varaico: Literature-Extracted Genetic Variants

Gene:CLN5
Variant:p.T75P
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CLN5

NM_006493.4:p.T75P

Associated Papers

Therapeutic landscape for Batten disease: current treatments and future prospects.

Johnson TB et al.

Nature Reviews. Neurology, 2019

Analysis of NCL Proteins from an Evolutionary Standpoint.

Muzaffar NE et al.

Current Genomics, 2008

Molecular genetics of the NCLs -- status and perspectives.

Siintola E et al.

Biochimica Et Biophysica Acta, 2006

The neuronal ceroid-lipofuscinoses.

Haltia M

Journal of Neuropathology and Experimental Neurology, 2003

Molecular basis of the neuronal ceroid lipofuscinoses: mutations in CLN1, CLN2, CLN3, and CLN5.

Mole SE et al.

Human Mutation, 1999

Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S.

Das AK et al.

The Journal of Clinical Investigation, 1998

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

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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."