Varaico: Literature-Extracted Genetic Variants

Gene:ST8SIA1
Variant:p.L40F
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ST8SIA1

NM_003034.4:p.L40F

Associated Papers

Identification of 11 potentially relevant gene mutations involved in growth retardation, intellectual disability, joint contracture, and hepatopathy.

Diao H et al.

Medicine, 2018

30431579 (PubMed )
Supplement: medi-97-e13117-s001.xlsx › Sheet1

Variants of ST8SIA1 are associated with risk of developing multiple sclerosis.

Husain S et al.

Plos One, 2008

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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."