Varaico: Literature-Extracted Genetic Variants

Gene:BAZ1A
Variant:p.R1093Q
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BAZ1A

NM_013448.3:p.R1093Q

Associated Papers

De novo variants in immune regulatory genes in Down syndrome regression disorder.

Jafarpour S et al.

Journal of Neurology, 2024

Exome sequencing in syndromic brain malformations identifies novel mutations in ACTB, and SLC9A6, and suggests BAZ1A as a new candidate gene.

Weitensteiner V et al.

Birth Defects Research, 2018

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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."