Varaico: Literature-Extracted Genetic Variants

Gene:RDH5
Variant:p.M138delFs
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RDH5

NM_002905.5:p.M138delFs

Associated Papers

A large animal model of RDH5-associated retinopathy recapitulates important features of the human phenotype.

Occelli LM et al.

Human Molecular Genetics, 2022

Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies.

Beryozkin A et al.

Scientific Reports, 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."