Varaico: Literature-Extracted Genetic Variants

Gene:SLC39A5
Variant:p.M304T
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SLC39A5

NM_173596.3:p.M304T

Associated Papers

Genetic inactivation of zinc transporter SLC39A5 improves liver function and hyperglycemia in obesogenic settings.

Chim SM et al.

Elife, 2024

Whole-Exome Sequencing in a Cohort of High Myopia Patients in Northwest China.

Liu Y et al.

Frontiers in Cell and Developmental Biology, 2021

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

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

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

Feng CY et al.

Scientific Reports, 2017

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

SLC39A5 mutations interfering with the BMP/TGF-β pathway in non-syndromic high myopia.

Guo H et al.

Journal of Medical Genetics, 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."