Varaico: Literature-Extracted Genetic Variants

Gene:ZSCAN22
Variant:p.Q129L
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ZSCAN22

NM_181846.3:p.Q129L

Associated Papers

Destabilization of mutated human PUS3 protein causes intellectual disability.

Lin TY et al.

Human Mutation, 2022

36125428 (PubMed )
Supplement: HUMU-43-2063-s002.xlsx › Pat._3_

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 702.278
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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."