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Pathogenic variants of Alport syndrome and monogenic diabetes identified by exome sequencing in a family

Authors present a family of two female Alport syndrome patients with a family history of impaired glucose tolerance



Editor’s Selection on Splicing Variants and Copy Number Variation

Human Genome Variation is delighted to present its first Collection for the March 2019 issue. Coordinated by the Editor-in-Chief, Professor Katsushi Tokunaga, this Collection features the latest Data Reports and Articles on the identifications of disease-causing splicing variants and copy number variations.