Associated Papers
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
40791678 (PubMed )
Supplement: media-2.xlsx › Table_S12_ClinVar_PLP_variants
Investigating the Role of B9D1 in Meckel-Gruber Syndrome: A Case Report and Comprehensive Literature Review.
Campobasso G et al.
Genes, 2025
Compound heterozygous missense and intronic variants in B9D1 contribute to a recurrent Meckel syndrome pedigree.
Jing H et al.
Frontiers in Genetics, 2025
Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits.
Yuan B et al.
Genome Medicine, 2022
36180924 (PubMed )
Supplement: 13073_2022_1113_MOESM1_ESM.xlsx › Table_S6
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