Varaico: Literature-Extracted Genetic Variants

Gene:GATAD2B
Variant:p.S189delFs
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GATAD2B

NM_020699.4:p.S189delFs

Associated Papers

The performance of genome sequencing as a first-tier test for neurodevelopmental disorders.

van der Sanden BPGH et al.

European Journal of Human Genetics : Ejhg, 2023

GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in Drosophila.

Willemsen MH et al.

Journal of Medical Genetics, 2013

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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."