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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ELMO3

Variant:p.V284I

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ELMO3

NM_024712.5:p.V284I

hg38:chr16:67201574 G>A

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_

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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."