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Updated: Jun 4, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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A Splice Site Variant in SENP7 Results in a Severe Form of Arthrogryposis

Udhaya Kotecha1, Euri S Kim2, Parth S Shah3,4

  • 1Neuberg Center for Genomic Medicine, Ahmedabad, India.

Clinical Genetics
|January 4, 2025
PubMed

Keywords:
SUMOylationarthrogryposis multiplex congenitacontracturesdeSUMOylasesarcomere

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