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Plasminogen deficiency type I (sequence analysis of PLG gene)
+ info
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Platyspondyly with amelogenesis imperfecta (sequence analysis of LTBP3 gene)
+ info
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Pleuropulmonary blastoma (sequence and CNV analyses of DICER1 gene)
+ info
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Polyarteritis nodosa | Sneddon syndrome (sequence analysis of ADA2 gene)
+ info
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Polycystic kidney disease (deletion/duplication analysis on PKD1 and PKD2 genes)
+ info
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Polycystic kidney disease (deletion/duplication analysis on PKD1 gene)
+ info
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Polycystic kidney disease (deletion/duplication analysis on PKD2 gene)
+ info
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Polycystic kidney disease (NGS panel of 6 genes, analysis of PKD1 gene based on Long-Range PCR)
+ info
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Polycystic kidney disease 4 (sequence analysis of PKHD1 gene)
+ info
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Polycystic kidney disease and related diseases (WES based NGS panel for 72 genes, including CNV analysis)
+ info
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Polycystic kidney disease type 1 (sequence analysis of PKD1 gene, Long-Range PCR based analysis)
+ info
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Polycystic kidney disease type 2 (sequence analysis of PKD2)
+ info
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Polycystic kidney disease type 3 (sequence analysis of GANAB)
+ info
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Polycystic kidney disease type 5 (sequence analysis of DZIP1L)
+ info
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Polycystic kidney disease type 6 (sequence analysis of DNAJB11)
+ info
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Polycystic kidney disease, AD (deletion/duplication analysis on GANAB gene)
+ info
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Polycystic kidney disease, AR (deletion/duplication analysis on PKHD1 gene)
+ info
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Polycystic liver disease (deletion/duplication analysis on PRKCSH gene)
+ info
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Polycystic liver disease (deletion/duplication analysis on SEC63 gene)
+ info
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Polycystic liver disease (sequence analysis of LRP5 gene)
+ info
