Varaico: Literature-Extracted Genetic Variants

Gene:IFT81
Variant:p.L614P
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IFT81

NM_014055.4:p.L614P

Associated Papers

Review: Intraflagellar transport proteins in the retina.

Kannabiran C

Molecular Vision, 2020

IFT81 as a Candidate Gene for Nonsyndromic Retinal Degeneration.

Dharmat R et al.

Investigative Ophthalmology & Visual Science, 2017

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."