Varaico: Literature-Extracted Genetic Variants

Gene:POU5F1
Variant:p.E125*
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POU5F1

NM_002701.6:p.E125*

Associated Papers

OAT mutations and clinical features in two Japanese brothers with gyrate atrophy of the choroid and retina.

Katagiri S et al.

Documenta Ophthalmologica. Advances in Ophthalmology, 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."