Varaico: Literature-Extracted Genetic Variants

Gene:CHST11
Variant:p.V76delFs
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CHST11

NM_018413.6:p.V76delFs

Associated Papers

Insights in the etiopathology of galactosyltransferase II (GalT-II) deficiency from transcriptome-wide expression profiling of skin fibroblasts of two sisters with compound heterozygosity for two novel B3GALT6 mutations.

Ritelli M et al.

Molecular Genetics and Metabolism Reports, 2015

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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."