Varaico: Literature-Extracted Genetic Variants

Gene:IQANK1
Variant:p.A78P
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IQANK1

NM_001381874.1:p.A78P

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.1
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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."