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Leiden University
Human Genetics and Clinical Genetics
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Johan T. den Dunnen
Biochemistry, Genetics and Molecular Biology
36.7k
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98
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26
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Agricultural and Biological Sciences
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Open access
A Case Series of Familial ARID1B Variants Illustrating Variable Expression and Suggestions to Update the ACMG Criteria
2021
Genes
article
Biochemistry, Genetics and Molecular Biology
Genomics and Rare Diseases
Open access
12
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ACO2 clinicobiological dataset with extensive phenotype ontology annotation
2021
Scientific Data
data-paper
Biochemistry, Genetics and Molecular Biology
Genomics and Rare Diseases
Open access
8
citations
2 results