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5
novel splice site and nonsense variants in invs cause infantile nephronophthisis.[2020][gene].pdf
novel splice site and nonsense variants in invs cause infantile nephronophthisis.[2020][gene]
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9
clinical and pathological features and varied mutational spectra of pathogenic genes in 55 chinese patients with nephronophthisis.[2020][clin chim.pdf
clinical and pathological features and varied mutational spectra of pathogenic genes in 55 chinese patients with nephronophthisis.[2020][clin chim
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16
SUMOylation Blocks the Ubiquitin-Mediated Degradation of the Nephronophthisis Gene Product Glis2NPHP7.pdf
SUMOylation Blocks the Ubiquitin-Mediated Degradation of the Nephronophthisis Gene Product Glis2NPHP7
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25
Senior-Lken Syndrome A syndromic form of retinal dystrophy associated with nephronophthisis.pdf
Senior-Lken Syndrome A syndromic form of retinal dystrophy associated with nephronophthisis
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10
The nephronophthisis-related gene ift-139 is required for ciliogenesis in Caenorhabditis elegans.pdf
The nephronophthisis-related gene ift-139 is required for ciliogenesis in Caenorhabditis elegans
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27
Mapping the Nephronophthisis-Joubert-Meckel-Gruber Protein Network Reveals Ciliopathy Disease Genes and Pathways.pdf
Mapping the Nephronophthisis-Joubert-Meckel-Gruber Protein Network Reveals Ciliopathy Disease Genes and Pathways
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11
Loss of GM3 synthase gene, but not sphingosine kinase 1, is protective against murine nephronophthisis-related polycystic kidney disease.pdf
Loss of GM3 synthase gene, but not sphingosine kinase 1, is protective against murine nephronophthisis-related polycystic kidney disease
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28
Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.pdf
Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy
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26
Mutation Analysis of 18 Nephronophthisis-associated Ciliopathy Disease Genes using a DNA Pooling and Next-Generation Sequencing Strategy.pdf
Mutation Analysis of 18 Nephronophthisis-associated Ciliopathy Disease Genes using a DNA Pooling and Next-Generation Sequencing Strategy
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12
A familial case of severe infantile nephronophthisis explained by oligogenic inheritance.[2017][Eur J Med Genet][10.1016j.ejmg.2017.04.002].pdf
A familial case of severe infantile nephronophthisis explained by oligogenic inheritance.[2017][Eur J Med Genet][10.1016j.ejmg.2017.04.002]
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