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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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Genetic testing experiences and genetics knowledge among families with inherited metabolic diseases

Aileen Kenneson1, Lauren Youngborg1, Rani H Singh1,2

  • 1Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.

Molecular Genetics and Metabolism Reports
|August 11, 2020
PubMed

Keywords:
AttitudesGenetic counselingGenetic testingInherited metabolic diseasesKnowledge

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