Varaico: Literature-Extracted Genetic Variants

Gene:GATAD2B
Variant:p.R414Q
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GATAD2B

NM_020699.4:p.R414Q

Associated Papers

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

Pejaver V et al.

American Journal of Human Genetics, 2022

36413997 (PubMed )
Supplement: mmc2.xlsx › mmc2

GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.

Shieh C et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

The NuRD complex and macrocephaly associated neurodevelopmental disorders.

Pierson TM et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2019

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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."