Varaico: Literature-Extracted Genetic Variants

Gene:SIAE
Variant:p.I211I
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SIAE

NM_170601.5:p.I211I

Associated Papers

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1696.600

Functionally defective germline variants of sialic acid acetylesterase in autoimmunity.

Surolia I et al.

Nature, 2010

20555325 (PubMed )
Supplement: NIHMS199054-supplement-1.pdf
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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."