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
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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.
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Correction: A novel frameshift pathogenic variant in ST3GAL5 causing salt and pepper developmental regression syndrome (SPDRS): a case report
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Pathogenic variants of Alport syndrome and monogenic diabetes identified by exome sequencing in a family
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Design and implementation of a hybrid cloud system for large-scale human genomic research
