Varaico: Literature-Extracted Genetic Variants

Gene:CDT1
Variant:p.L275P
Back to variants list

CDT1

NM_030928.4:p.L275P

Associated Papers

Optimizing the molecular diagnosis of GALNS: novel methods to define and characterize Morquio-A syndrome-associated mutations.

Caciotti A et al.

Human Mutation, 2015

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."