Varaico: Literature-Extracted Genetic Variants

Gene:ADAMTS17
Variant:p.G544R
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ADAMTS17

NM_139057.4:p.G544R

Associated Papers

A novel compound heterozygous mutation in ADAMTS17 identified in a Chinese family with Weill-Marchesani syndrome.

Wu HY et al.

International Journal of Ophthalmology, 2026

Characteristics and genotype-phenotype correlations in ADAMTS17 mutation-related Weill-Marchesani syndrome.

Guo D et al.

Experimental Eye Research, 2023

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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."