Varaico: Literature-Extracted Genetic Variants

Gene:AP1S2
Variant:p.Q123*
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AP1S2

NM_001272071.2:p.Q123*

Associated Papers

A novel AP1S2 variant causing leaky splicing in X-linked intellectual disability: Further delineation and intrafamilial variability.

Noojarern S et al.

American Journal of Medical Genetics. Part A, 2024

Identification of a 5 bp duplicate in the AP1S2 gene of an individual with X-linked intellectual disability.

Zhu D et al.

Neurogenetics, 2022

A novel splice site mutation in AP1S2 gene for X-linked mental retardation in a Chinese pedigree and literature review.

Huo L et al.

Brain and Behavior, 2019

Next-generation sequencing in X-linked intellectual disability.

Tzschach A et al.

European Journal of Human Genetics : Ejhg, 2015

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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."