Varaico: Literature-Extracted Genetic Variants

Gene:SIAE
Variant:p.G64S
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SIAE

NM_170601.5:p.G64S

Associated Papers

SIAE Rare Variants in Juvenile Idiopathic Arthritis and Primary Antibody Deficiencies.

Sevdali E et al.

Journal of Immunology Research, 2017

A missense single-nucleotide polymorphism in the sialic acid acetylesterase (SIAE) gene is associated with anti-PIT-1 antibody syndrome.

Yamamoto M et al.

Endocrine Journal, 2014

No evidence for rare pathological SIAE coding variants in patients with vitiligo.

Al-Yami N et al.

International Journal of Dermatology, 2013

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

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."