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Updated: Oct 8, 2025

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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Novel Consensus Splice Site Pathogenic Variation in THOC2 Gene Leads to Recurrent Arthrogryposis Multiplex Congenita

Vasundhara Tamhankar1,2, Parag Tamhankar2,1, Rajas Chaubal3

  • 1Genetics, Centre for Medical Genetics, Mumbai, IND.

Cureus
|January 3, 2022
PubMed

Keywords:
arthrogryposis multiplex congenitamrna exportmutationsplicethoc2x linked recessive

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