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A novel PS4 criterion approach based on symptoms of rare diseases and in-house frequency data in a Bayesian framework
7월 2, 2024
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Exome Sequencing has a high diagnostic rate in sporadic congenital hypopituitarism and reveals novel candidate genes
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A novel likely pathogenic PLCG2 variant in a patient with a recurrent skin blistering disease and B-cell lymphopenia
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