Varaico: Literature-Extracted Genetic Variants

Gene:ADAMTS17
Variant:p.K351delins
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ADAMTS17

NM_139057.4:p.K351delins

Associated Papers

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

Guo D et al.

Experimental Eye Research, 2023

Weill-Marchesani syndrome 4 caused by compound heterozygosity of a maternal submicroscopic deletion and a paternal nonsense variant in the ADAMTS17 gene: A case report.

Yu X et al.

American Journal of Ophthalmology Case Reports, 2022

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