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Article

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

Biomolecules - 13 Mar 2020

Rim John Hoon, Choi Yo Jun, Gee Heon Yung

Abstract excerpt

ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) are a family of multidomain extracellular protease enzymes with 19 members. A growing number of ADAMTS family gene variants have been identified in patients with various hereditary diseases. To understand the genomic landscape and mutational spectrum of ADAMTS family genes, we evaluated all reported variants in the ClinVar database and Human...

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PMID: 32183147
DOI: 10.3390/biom10030449
PMCID: PMC7175297

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