Varaico: Literature-Extracted Genetic Variants

Gene:ADAMTS2
Variant:p.R241C
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ADAMTS2

NM_014244.5:p.R241C

Associated Papers

The Increased Burden of Rare Variants in Four Matrix Metalloproteinase-Related Genes in Childhood Glaucoma Suggests a Complex Genetic Inheritance of the Disease.

Tevar A et al.

International Journal of Molecular Sciences, 2024

38891949 (PubMed )
Supplement: ijms-25-05757-s001.zip › ijms-2938569-supplementary.pdf

Optical Genome Mapping Identifies Novel Recurrent Structural Alterations in Childhood ETV6::RUNX1+ and High Hyperdiploid Acute Lymphoblastic Leukemia.

Brandes D et al.

Hemasphere, 2023

37469802 (PubMed )
Supplement: hs9-7-e925-s001.xlsx › Table_S5_
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