Varaico: Literature-Extracted Genetic Variants

Gene:DOCK3
Variant:p.Q128E
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DOCK3

NM_004947.5:p.Q128E

Associated Papers

Variants in DOCK3 cause developmental delay and hypotonia.

Wiltrout K et al.

European Journal of Human Genetics : Ejhg, 2019

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."