Varaico: Literature-Extracted Genetic Variants

Gene:ADAMTS18
Variant:p.L356*
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ADAMTS18

NM_199355.4:p.L356*

Associated Papers

Expansion of genotypic and phenotypic findings in ADAMTS18-related ocular pathology.

August AH et al.

American Journal of Ophthalmology Case Reports, 2025

Genomic Landscape and Mutational Spectrum of ADAMTS Family Genes in Mendelian Disorders Based on Gene Evidence Review for Variant Interpretation.

Rim JH et al.

Biomolecules, 2020

Expansion of ocular phenotypic features associated with mutations in ADAMTS18.

Chandra A et al.

Jama Ophthalmology, 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."