The novel compound heterozygous variants identified in a Chinese family with glucose phosphate isomerase deficiency and pathogenicity analysis.

Compared to the wild-type, the mutation G87C led to a significant increase in intermolecular forces. The novel gene variants identified in the present study has further expanded the mutational spectrum of GPI deficiency, which can better guide family counselling.

Countstar (model not specified) was the instrument used to assess cell numbers in the study's cell samples during sample-quality assessment.