Varaico: Literature-Extracted Genetic Variants

Gene:RDH12
Variant:p.A166_R169del0
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RDH12

NM_152443.3:p.A166_R169del0

Associated Papers

CRB1-Related Retinal Dystrophies in a Cohort of 50 Patients: A Reappraisal in the Light of Specific Müller Cell and Photoreceptor CRB1 Isoforms.

Mairot K et al.

International Journal of Molecular Sciences, 2021

Hypomorphic variants in inherited retinal and ocular diseases: A review of the literature with clinical cases.

Thuma TBT et al.

Survey of Ophthalmology, 0

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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."