Varaico: Literature-Extracted Genetic Variants

Gene:ASXL3
Variant:p.R1560*
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ASXL3

NM_030632.3:p.R1560*

Associated Papers

Clinical utility of genome sequencing in autism: illustrative examples from a genomic research study.

Selvanayagam T et al.

Journal of Medical Genetics, 2025

Four heterozygous de novo variants in ASXL3 identified with Bainbridge-Ropers syndrome and further dissecting published genotype-phenotype spectrum.

Ling S et al.

Frontiers in Neuroscience, 2024

Precursor B-cell acute lymphoblastic leukemia in a pediatric patient with Bainbridge-Ropers syndrome.

Slatnick LR et al.

Pediatric Blood & Cancer, 2023

BAINBRIDGE ROPERS SYNDROME AS A RARE CAUSE OF AUTISM SPECTRUM DISORDER.

Sümeyra Naralan Y et al.

Psychiatria Danubina, 2023

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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."