Varaico: Literature-Extracted Genetic Variants

Gene:IDH3G
Variant:p.K340Splc
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IDH3G

NM_004135.4:p.K340Splc

Associated Papers

CLEC16A interacts with retromer and TRIM27, and its loss impairs endosomal trafficking and neurodevelopment.

Smits DJ et al.

Human Genetics, 2023

36538041 (PubMed )
Supplement: 439_2022_2511_MOESM3_ESM.xlsx › Sheet1
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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."