Varaico: Literature-Extracted Genetic Variants

Gene:GABRE
Variant:p.R87C
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GABRE

NM_004961.4:p.R87C

Associated Papers

Identification and characterization of a missense mutation in the O-linked β-N-acetylglucosamine (O-GlcNAc) transferase gene that segregates with X-linked intellectual disability.

Vaidyanathan K et al.

The Journal of Biological Chemistry, 2017

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.

Hu H et al.

Molecular Psychiatry, 2016

25644381 (PubMed )
Supplement: mp2014193x1.pdf
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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."