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

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 a...

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Detalles Bibliográficos
Autores principales:	Rim, John Hoon, Choi, Yo Jun, Gee, Heon Yung
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2020
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7175297/ https://www.ncbi.nlm.nih.gov/pubmed/32183147 http://dx.doi.org/10.3390/biom10030449

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