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Massively parallel identification of functionally consequential noncoding genetic variants in undiagnosed rare disease patients.
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has minor subject area list
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Genome; Genomics; Humans; Whole Genome Sequencing
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information resource reference
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McQuerry JA, Mclaird M, Hartin SN, Means JC, Johnston J, Pastinen T, Younger ST. Massively parallel identification of functionally consequential noncoding genetic variants in undiagnosed rare disease patients. Sci Rep. 2022 05 09; 12(1):7576.
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label
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Massively parallel identification of functionally consequential noncoding genetic variants in undiagnosed rare disease patients.
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