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Compilation of genotype and phenotype data in GCDH-LOVD for variant classification and further application
by Tibelius, Alexandra (Author)
, Evers, Christina (Author)
, Oeser, Sabrina (Author)
, Rinke, Isabelle (Author)
, Jauch, Anna (Author)
, Hinderhofer, Katrin (Author)
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Genes, 14 (2023), 12, Artikel-ID 2218, Seite 1-17
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lizenzpflichtig
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Medizinische Fakultät Heidelberg
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Klinikum der Universität Heidelberg
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Institut für Humangenetik
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Evers, Christina
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Hinderhofer, Katrin
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Jauch, Anna
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Oeser, Sabrina
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<i>GCDH</i>
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LOVD
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geographic distribution
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glutaric acidemia
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glutaric aciduria
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glutaryl-CoA dehydrogenase
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inborn errors of metabolism
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variant classification
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variant interpretation
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variation database
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