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Updated: Jan 1, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

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Life-threatening presentations of propionic acidemia due to the Amish PCCB founder variant

William B Hannah1,2,3, Katherine J Dempsey1,2, Lori-Anne P Schillaci1,2

  • 1Center for Human Genetics, University Hospitals Cleveland Medical Center, Cleveland, OH, United States of America.

Molecular Genetics and Metabolism Reports
|December 18, 2019
PubMed

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