Varaico: Literature-Extracted Genetic Variants

Gene:CLN3
Variant:p.S161*
Back to variants list

CLN3

NM_001042432.2:p.S161*

Associated Papers

Novel CLN3 mutation causing autophagic vacuolar myopathy.

Cortese A et al.

Neurology, 2014

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

Mole SE et al.

Human Mutation, 1999

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."