Varaico: Literature-Extracted Genetic Variants

Gene:OTX2
Variant:p.C170*
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OTX2

NM_172337.3:p.C170*

Associated Papers

The phenotypic spectrum associated with OTX2 mutations in humans.

Gregory LC et al.

European Journal of Endocrinology, 2021

Molecular findings from 537 individuals with inherited retinal disease.

Ellingford JM et al.

Journal of Medical Genetics, 2016

27208204 (PubMed )
Supplement: jmedgenet-2016-103837supp_tables.pdf
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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."