A comprehensive global genotype–phenotype database for rare diseases
Molecular Genetics & Genomic Medicine2016Vol. 5(1), pp. 66–75
Citations Over TimeTop 10% of 2016 papers
Daniel Trujillano, Gabriela Oprea, Yvonne Schmitz, Aida M. Bertoli‐Avella, Rami Abou Jamra, Arndt Rolfs
Abstract
The database offers a comprehensive summary of the clinical validity and causality of detected gene variants with their associated phenotypes, and is a valuable tool for identifying new disease genes through the correlation of novel genetic variants with specific, well-defined phenotypes.
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