Varaico: Literature-Extracted Genetic Variants

Gene:TRRAP
Variant:p.L805F
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TRRAP

NM_001375524.1:p.L805F

Associated Papers

O-GlcNAc transferase congenital disorder of glycosylation (OGT-CDG): Potential mechanistic targets revealed by evaluating the OGT interactome.

Mayfield JM et al.

The Journal of Biological Chemistry, 2024

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.

Cogné B et al.

American Journal of Human Genetics, 2019

Circulating tumor DNA analysis depicts subclonal architecture and genomic evolution of small cell lung cancer.

Nong J et al.

Nature Communications, 2018

30082701 (PubMed )
Supplement: 41467_2018_5327_MOESM6_ESM.xlsx › ___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."