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2015
(2)
2025
(1)
2024
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2018
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Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73.
Not available
S-EPMC4511861
|
biostudies-literature
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Genetic association analysis identifies variants associated with disease progression in primary sclerosing cholangitis.
Not available
S-EPMC5797498
|
biostudies-literature
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Bi-allelic UGGT1 variants cause a congenital disorder of glycosylation.
Not available
S-EPMC12120171
|
biostudies-literature
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Large-scale discovery of novel genetic causes of developmental disorders.
Not available
S-EPMC5955210
|
biostudies-literature
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Extracorporeal Life Support Organization Registry International Report 2022: 100,000 Survivors.
Not available
S-EPMC10962646
|
biostudies-literature
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