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Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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The variability of SMARCA4-related Coffin-Siris syndrome: Do nonsense candidate variants add to milder phenotypes?

Dong Li1, Rebecca C Ahrens-Nicklas2, Janice Baker3

  • 1Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

American Journal of Medical Genetics. Part A
|July 21, 2020
PubMed

Keywords:
BAF complexCoffin-Siris syndromeSMARCA4intellectual disabilitynonsense variants

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