Associated Papers
Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes.
Brünger T et al.
Genome Biology, 2025
40624578 (PubMed )
Supplement: 13059_2025_3663_MOESM2_ESM.xlsx › SupplementaryTable1
Novel G6PC3 Mutations in Patients with Congenital Neutropenia: Case Reports and Review of the Literature.
Maroufi SF et al.
Endocrine, Metabolic & Immune Disorders Drug Targets, 2021
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