Varaico: Literature-Extracted Genetic Variants

Gene:CHIT1
Variant:p.T52I
Back to variants list

CHIT1

NM_003465.3:p.T52I

Associated Papers

Nine-year experience in Gaucher disease diagnosis at the Spanish reference center Fundación Jiménez Díaz.

Ortiz-Cabrera NV et al.

Molecular Genetics and Metabolism Reports, 2016

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."