Varaico: Literature-Extracted Genetic Variants

Gene:DOCK7
Variant:p.R827*
Back to variants list

DOCK7

NM_001367561.1:p.R827*

Associated Papers

Characteristic facial features and cortical blindness distinguish the DOCK7-related epileptic encephalopathy.

Haberlandt E et al.

Molecular Genetics & Genomic Medicine, 2021

Novel DOCK7 mutations in a Chinese patient with early infantile epileptic encephalopathy 23.

Bai B et al.

Chinese Medical Journal, 2019

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."