Associated Papers
Dyssegmental dysplasia Rolland-Desbuquois type is caused by pathogenic variants in HSPG2 - a founder haplotype shared in five patients.
Farshadyeganeh P et al.
Journal of Human Genetics, 2024
Exome Sequencing in Individuals with Isolated Biliary Atresia.
Rajagopalan R et al.
Scientific Reports, 2020
32066793 (PubMed )
Supplement: 41598_2020_59379_MOESM2_ESM.xlsx › Supp.Table_2_all_variants
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