Associated Papers
The Genetic Architecture of Congenital Diarrhea and Enteropathy.
Gaibee Z et al.
The New England Journal of Medicine, 2025
40174224 (PubMed )
Supplement: NIHMS2042924-supplement-supp_table_8.xlsx › Variant_Summary_table
Discordance between a deep learning model and clinical-grade variant pathogenicity classification in a rare disease cohort.
Kong SW et al.
Npj Genomic Medicine, 2025
Discordance between a deep learning model and clinical-grade variant pathogenicity classification in a rare disease cohort.
Kong SW et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
The genetics of monogenic intestinal epithelial disorders.
Babcock SJ et al.
Human Genetics, 2023
Novel variants in the stem cell niche factor WNT2B define the disease phenotype as a congenital enteropathy with ocular dysgenesis.
Zhang YJ et al.
European Journal of Human Genetics : Ejhg, 2021
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