Novel Consensus Splice Site Pathogenic Variation in THOC2 Gene Leads to Recurrent Arthrogryposis Multiplex Congenita Phenotype: A Case Report

The THOC2 gene encodes THO complex subunit 2, a subunit of the Transcription-Export (TREX) complex which binds specifically to splice messenger ribonucleic acid (mRNAs) to facilitate mRNA export. Mutations in the THOC2 gene have been described to lead to X-linked mental retardation syndrome type 12/...

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Detalles Bibliográficos
Autores principales: Tamhankar, Vasundhara, Tamhankar, Parag, Chaubal, Rajas, Chaubal, Jyoti, Chaubal, Nitin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8681921/
https://www.ncbi.nlm.nih.gov/pubmed/34976470
http://dx.doi.org/10.7759/cureus.19682

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8681921/
https://www.ncbi.nlm.nih.gov/pubmed/34976470
http://dx.doi.org/10.7759/cureus.19682

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