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UnknownClinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14.
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UnknownSolving unsolved rare neurological diseases-a Solve-RD viewpoint.
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UnknownAn interconnected data infrastructure to support large-scale rare disease research.
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UnknownComprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.
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S-EPMC11513043 | biostudies-literature
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