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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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Expanding the phenotypic spectrum of RPL13-related skeletal dysplasia

Breann Reinsch1, Katheryn Grand2, Ralph S Lachman3,4,5

  • 1Master of Science in Genetic Counseling Program, School of Pharmacy and Health Sciences, Keck Graduate Institute, Claremont, California, USA.

American Journal of Medical Genetics. Part A
|November 28, 2020
PubMed

Keywords:
Legg-Calve-PerthesRPL13RPL13-related disorderavascular necrosis of the femoral headmultiple epiphyseal dysplasiaskeletal dysplasia

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