Varaico: Literature-Extracted Genetic Variants

Gene:LRPAP1
Variant:p.Q67delFs
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LRPAP1

NM_002337.4:p.Q67delFs

Associated Papers

Lrpap1 deficiency leads to myopia through TGF-β-induced apoptosis in zebrafish.

Liu S et al.

Cell Communication and Signaling : Ccs, 2022

An overview of myopia genetics.

Cai XB et al.

Experimental Eye Research, 2019

Expanding the Phenotypic and Genotypic Landscape of Nonsyndromic High Myopia: A Cross-Sectional Study in 731 Chinese Patients.

Cai XB et al.

Investigative Ophthalmology & Visual Science, 2019

Exome sequencing identified null mutations in LOXL3 associated with early-onset high myopia.

Li J et al.

Molecular Vision, 2016

Detection of mutations in LRPAP1, CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2 in 298 families with early-onset high myopia by exome sequencing.

Jiang D et al.

Investigative Ophthalmology & Visual Science, 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."