Varaico: Literature-Extracted Genetic Variants

Gene:GATAD2B
Variant:p.L28fs
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GATAD2B

NM_020699.4:p.L28fs

Associated Papers

Tissue-specific DNase I footprint analysis confirms the association of GATAD2B Q470* variant with intellectual disability.

Nikam V et al.

Journal of Genetics, 2021

GATAD2B Gene Microdeletion Causing Intellectual Disability Autosomal Dominant Type 18: Case Report and Review of the Literature.

Trubnykova M et al.

Molecular Syndromology, 2019

Novel GATAD2B loss-of-function mutations cause intellectual disability in two unrelated cases.

Luo X et al.

Journal of Human Genetics, 2017

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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."