Varaico: Literature-Extracted Genetic Variants

Gene:RDH12
Variant:p.L205_N207delFs
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RDH12

NM_152443.3:p.L205_N207delFs

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

The genetic profile of Leber congenital amaurosis in an Australian cohort.

Thompson JA et al.

Molecular Genetics & Genomic Medicine, 2017

29178642 (PubMed )
Supplement: MGG3-5-652-s001.pdf

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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