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2024
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2023
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2020
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Evidence for 28 genetic disorders discovered by combining healthcare and research data.
Not available
S-EPMC7116826
|
biostudies-literature
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Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland.
Not available
S-EPMC7614484
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biostudies-literature
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Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.
Not available
S-EPMC10932913
|
biostudies-literature
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