Associated Papers
Functional categorization of gene regulatory variants that cause Mendelian conditions.
Cheng YHH et al.
Human Genetics, 2024
A curated census of pathogenic and likely pathogenic UTR variants and evaluation of deep learning models for variant effect prediction.
Bohn E et al.
Frontiers in Molecular Biosciences, 2023
Clinical and Genetic Characterization of 153 Patients with Persistent or Transient Congenital Hyperinsulinism.
Männistö JME et al.
The Journal of Clinical Endocrinology and Metabolism, 2020
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