Article

Fructose-1,6-bisphosphatase deficiency: estimation of prevalence in the Chinese population and analysis of genotype-phenotype association

2023-01-17

Abstract excerpt

<title>Abstract</title> <p>Background Fructose-1,6-bisphosphatase deficiency (FBP1D) is a rare inborn error due to mutations in the <italic>FBP1</italic> gene. The genetic spectrum of FBP1D in China is unknown, also nonspecific manifestations confuse disease diagnosis. Materials & Methods We collected 101 <italic>FBP1</italic> variants from our cohort and public resources, and manually curated pathogenicity of...

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Literature Corpus work: ab493ff3-758d-50a0-810c-e6dc69c8ba4a
DOI: 10.21203/rs.3.rs-2453356/v1

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