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A heterozygous GRID2 mutation in autosomal dominant cerebellar ataxia

A heterozygous mutation in GRID2 that causes SCAR18 was first reported in an Algerian family with autosomal dominant cerebellar ataxia (ADCA). 



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.