Varaico: Literature-Extracted Genetic Variants

Gene:LRIT3
Variant:p.S513fs
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LRIT3

NM_198506.5:p.S513fs

Associated Papers

Whole exome sequencing: Uncovering causal genetic variants for ocular diseases.

Gupta S et al.

Experimental Eye Research, 2017

LRIT3 Differentially Affects Connectivity and Synaptic Transmission of Cones to ON- and OFF-Bipolar Cells.

Neuillé M et al.

Investigative Ophthalmology & Visual Science, 2017

Lrit3 deficient mouse (nob6): a novel model of complete congenital stationary night blindness (cCSNB).

Neuillé M et al.

Plos One, 2014

Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness.

Zeitz C et al.

American Journal of Human Genetics, 2013

Mutation screening of the LRIT3, CABP4, and GPR179 genes in Chinese patients with Schubert-Bornschein congenital stationary night blindness.

Dan H et al.

Ophthalmic Genetics, 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."