Varaico: Literature-Extracted Genetic Variants

Gene:HPD
Variant:p.F133S
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HPD

NM_002150.3:p.F133S

Associated Papers

Novel HPD mutation p.A244V compound with p.T219M causing tyrosinemia type III in a Chinese girl and review of the genotype-phenotype spectrum.

Han D et al.

Molecular Genetics & Genomic Medicine, 2024

37817461 (PubMed )
Supplement: MGG3-12-e2298-s002.xlsx › B_LB
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