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tissuespecificpromoterderivedfromasineretrotransposondrivesbiallelicexpressionofplagl1inhumanlymphocytes
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A tissue-specific promoter derived from a SINE retrotransposon drives biallelic expression of PLAGL1 in human lymphocytes
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1
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biallelicsequenceandstructuralvariantsinrax2areanovelcauseforautosomalrecessiveinheritedretinaldisease
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Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease
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1
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drugandsirnascreensidentifyrock2asatherapeutictargetforciliopathies
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Drug and siRNA screens identify ROCK2 as a therapeutic target for ciliopathies
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1
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spectrumofpathogenicvariantsandmultiplefoundereffectsinamelogenesisimperfectaassociatedwithmmp20
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Spectrum of pathogenic variants and multiple founder effects in amelogenesis imperfecta associated with MMP20
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1
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spectrumofpathogenicvariantsandfoundereffectsinamelogenesisimperfectaassociatedwithmmp20
‡A
Spectrum of pathogenic variants and founder effects in amelogenesis imperfecta associated with MMP20
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1
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phenotypeandvariantspectruminthelamb3formofamelogenesisimperfecta
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Phenotype and Variant Spectrum in the LAMB3 Form of Amelogenesis Imperfecta
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1
