Varaico: Literature-Extracted Genetic Variants

Gene:SIAE
Variant:p.T312M
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SIAE

NM_170601.5:p.T312M

Associated Papers

M89V Sialic acid Acetyl Esterase (SIAE) and all other non-synonymous common variants of this gene are catalytically normal.

Chellappa V et al.

Plos One, 2013

The role of functionally defective rare germline variants of sialic acid acetylesterase in autoimmune Addison's disease.

Gan EH et al.

European Journal of Endocrinology, 2012

Association of primary biliary cirrhosis with variants in the CLEC16A, SOCS1, SPIB and SIAE immunomodulatory genes.

Hirschfield GM et al.

Genes and Immunity, 2012

Functionally defective germline variants of sialic acid acetylesterase in autoimmunity.

Surolia I et al.

Nature, 2010

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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."