Varaico: Literature-Extracted Genetic Variants

Gene:OCLN
Variant:p.Q441fs
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OCLN

NM_001205254.2:p.Q441fs

Associated Papers

OCLN gene variants identified in three patients with severe neurodevelopmental disorder associated with epilepsy, intellectual disability and malformation of cortical development.

Oner TO et al.

Epileptic Disorders : International Epilepsy Journal With Videotape, 2021

Comprehensive molecular screening strategy of OCLN in band-like calcification with simplified gyration and polymicrogyria.

Jenkinson EM et al.

Clinical Genetics, 2018

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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."