Varaico: Literature-Extracted Genetic Variants

Gene:AFF3
Variant:p.E78V
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AFF3

NM_001386135.1:p.E78V

Associated Papers

Genetic analysis of 280 children with unexplained developmental delay or intellectual disability using whole exome sequencing.

Xu J et al.

Bmc Pediatrics, 2024

Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles.

Bassani S et al.

Genome Medicine, 2024

De novo AFF3 variant in a patient with mesomelic dysplasia with foot malformation.

Shimizu D et al.

Journal of Human Genetics, 2019

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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."