Varaico: Literature-Extracted Genetic Variants

Gene:EFS
Variant:p.S6_T7Splc
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EFS

NM_005864.4:p.S6_T7Splc

Associated Papers

Molecular analysis in a GALNS study cohort of 15 Tunisian patients: description of a novel mutation.

Chkioua L et al.

Diagnostic Pathology, 2016

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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."