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Phosphoglycerate kinase 1 deficiency (sequence analysis of PGK1 gene)
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Phosphoserine aminotransferase deficiency (sequence analysis of PSAT1 gene)
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Phosphoserine phosphatase deficiency (sequence analysis of PSPH gene)
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Piebaldism (deletion/duplication analysis of KIT and SNAI2 genes)
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Piebaldism (sequence analysis of KIT gene)
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Pierson syndrome (sequence analysis of LAMB2 gene)
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Pitt-Hopkins syndrome (deletion/duplication analysis on TCF4 gene)
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Pitt-Hopkins syndrome (sequence analysis of TCF4 gene)
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Pitt-Hopkins-like 2 syndrome (deletion/duplication analysis of NRXN1 gene)
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Pitt-Hopkins-like syndrome 2 (sequence analysis of NRXN1 gene)
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Pituitary adenoma (sequence analysis of GPR101 gene)
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Pituitary hormone deficiency 2, combined (sequence analysis of PROP1 gene)
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Pituitary hormone deficiency, combined 5 (deletion/duplication analysis on HESX1 gene)
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Pituitary hormone deficiency, combined 5 (sequence analysis of HESX1 gene)
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Pituitary hormone deficiency, combined 6 (sequence analysis of OTX2 gene)
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Pituitary hormone deficiency, combined, 1 (sequence analysis of POU1F1 gene)
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Pituitary hormone deficiency, combined, 3 (sequence analysis of LHX3 gene)
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Pituitary hormone deficiency, combined, 4 (sequence analysis of LHX4 gene)
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Plasminogen activator inhibitor-1 deficiency (deletion/duplication analysis on SERPINE1 gene)
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Plasminogen activator inhibitor-1 deficiency (sequence analysis of SERPINE1 gene)
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