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Article

The functional impact of two variants of uncertain significance in TNFAIP3

2022-09-07

Abstract excerpt

<title>Abstract</title> <p><bold>Purpose</bold> Mutations in <italic>TNFAIP3</italic> have recently been recognized as critical cause leading to early-onset autoinflammatory and autoimmune syndrome. And gradually more <italic>TNFAIP3 </italic>gene mutations were reported, most were frameshift and truncation mutations, and only a few were missense mutations. Here, we reported five Chinese patients manifested with...

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Literature Corpus work
836c6126-0c47-59d3-a8ec-3a3ff3230ca6
DOI
10.21203/rs.3.rs-2011811/v1
Open publication

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The functional impact of two variants of uncertain significance in TNFAIP3DOI 10.21203/rs.3.rs-2011811/v1
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