Varaico: Literature-Extracted Genetic Variants

Gene:OCEL1
Variant:p.A167T
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OCEL1

NM_024578.3:p.A167T

Associated Papers

Aicardi Syndrome Is a Genetically Heterogeneous Disorder.

Ha TT et al.

Genes, 2023

Aicardi syndrome, an unsolved mystery: Review of diagnostic features, previous attempts, and future opportunities for genetic examination.

Wong BKY et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2018

Independent variant analysis of TEAD1 and OCEL1 in 38 Aicardi syndrome patients.

Wong BK et al.

Molecular Genetics & Genomic Medicine, 2017

A De Novo Mutation in TEAD1 Causes Non-X-Linked Aicardi Syndrome.

Schrauwen I et al.

Investigative Ophthalmology & Visual Science, 2015

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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."