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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
Ortal Resnick1, Giovanna Beauchamp1
1Division of Pediatric Endocrinology and Diabetes, University of Alabama at Birmingham, Birmingham, AL 35233, USA.
Rare X-linked RNF113A disorders cause neurodevelopmental and endocrine issues. This study links a specific RNF113A variant to consistent symptoms in 46,XY twins, including testicular regression syndrome.
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