Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.T153I
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RPE65

NM_000329.3:p.T153I

Associated Papers

Inward rectifier potassium (Kir) channels in the retina: living our vision.

Beverley KM et al.

American Journal of Physiology. Cell Physiology, 2022

The genetic landscape of inherited eye disorders in 74 consecutive families from the United Arab Emirates.

Méjécase C et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020

Novel mutations in the 3-box motif of the BACK domain of KLHL7 associated with nonsyndromic autosomal dominant retinitis pigmentosa.

Oh JK et al.

Orphanet Journal of Rare Diseases, 2019

Application of next-generation sequencing to identify genes and mutations causing autosomal dominant retinitis pigmentosa (adRP).

Daiger SP et al.

Advances in Experimental Medicine and Biology, 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."