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UnknownSuccess and Pitfalls of Genetic Testing in Undiagnosed Diseases: Whole Exome Sequencing and Beyond.
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S-EPMC10297877 | biostudies-literature
UnknownWNK1 is a chloride-stimulated scaffold that regulates mTORC2 activity and ion transport.
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S-EPMC9789407 | biostudies-literature
UnknownNovel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders.
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S-EPMC8756545 | biostudies-literature
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