Varaico: Literature-Extracted Genetic Variants

Gene:DOCK3
Variant:p.Q128*
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DOCK3

NM_004947.5:p.Q128*

Associated Papers

DOCK3-Associated Neurodevelopmental Disorder-Clinical Features and Molecular Basis.

Alexander MS et al.

Genes, 2023

Variants in DOCK3 cause developmental delay and hypotonia.

Wiltrout K et al.

European Journal of Human Genetics : Ejhg, 2019

DOCK3-related neurodevelopmental syndrome: Biallelic intragenic deletion of DOCK3 in a boy with developmental delay and hypotonia.

Iwata-Otsubo A et al.

American Journal of Medical Genetics. Part A, 2018

Biallelic loss-of-function variants in DOCK3 cause muscle hypotonia, ataxia, and intellectual disability.

Helbig KL et al.

Clinical 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."