Varaico: Literature-Extracted Genetic Variants

Gene:CST7
Variant:p.Q81_I82Splc
Back to variants list

CST7

NM_003650.4:p.Q81_I82Splc

Associated Papers

Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes.

Müller JS et al.

Brain : a Journal of Neurology, 2007

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."