Varaico: Literature-Extracted Genetic Variants

Gene:ADAMTS17
Variant:p.R433*
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ADAMTS17

NM_139057.4:p.R433*

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

Genomic characterization of AML with aberrations of chromosome 7: a multinational cohort of 519 patients.

Halik A et al.

Journal of Hematology & Oncology, 2024

39160538 (PubMed )
Supplement: 13045_2024_1590_MOESM1_ESM.xlsx › Suppl._Dataset_3_WES_SNV

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

Guo D et al.

Experimental Eye Research, 2023

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