Associated Papers
C-terminal frameshift variants in GPKOW are associated with a multisystemic X-linked disorder.
Mok JW et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
Variant in the X-chromosome spliceosomal gene GPKOW causes male-lethal microcephaly with intrauterine growth restriction.
Carroll R et al.
European Journal of Human Genetics : Ejhg, 2017
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