Varaico: Literature-Extracted Genetic Variants

Gene:DOCK7
Variant:p.D837delFs
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DOCK7

NM_001367561.1:p.D837delFs

Associated Papers

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

Haberlandt E et al.

Molecular Genetics & Genomic Medicine, 2021

In silico prioritization based on coexpression can aid epileptic encephalopathy gene discovery.

Oliver KL et al.

Neurology. Genetics, 2016

27066588 (PubMed )
Supplement: supp_2.1.e51_table_e-2.xlsx › table_e-2

Novel Genes of Early-Onset Epileptic Encephalopathies: From Genotype to Phenotypes.

Mastrangelo M

Pediatric Neurology, 2015

Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness.

Perrault I et al.

American Journal of Human Genetics, 2014

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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."