The same genomic variants in the first three exons of KANSL1 can be either benign or causative of Koolen-de Vries syndrome: Definition of a validation procedure
Federica Francesca L'Erario, Giuseppe Marangi, Anna Gloria Renzi, Marina Carapelle, Paolo Niccolò Doronzio, Domizia Pasquetti, Sabrina Maietta, Elena Sonnini, Annalisa Gazzellone, Marcella Zollino
Abstract
Genes, proteins, chemicals, diseases, species, mutations and cell lines named across the full text — each resolved to its canonical identifier and authoritative record.
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Taxonomy
TopicsGenetic factors in colorectal cancer · Genomic variations and chromosomal abnormalities · Genomics and Rare Diseases