Varaico: Literature-Extracted Genetic Variants

Gene:SLC39A5
Variant:p.R319T
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SLC39A5

NM_173596.3:p.R319T

Associated Papers

18 individual genes underwent variant screening in a northwest Chinese group comprised 83 probands diagnosed with early-onset high myopia.

Liu Y et al.

Plos One, 2025

Mutation screening of 17 candidate genes in a cohort of 67 probands with early-onset high myopia.

Liu F et al.

Ophthalmic & Physiological Optics : the Journal of the British College of Ophthalmic Opticians (optometrists), 2020

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

Mutational screening of SLC39A5, LEPREL1 and LRPAP1 in a cohort of 187 high myopia patients.

Feng CY et al.

Scientific Reports, 2017

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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."