In Silico Characterization of RNASEH2A Pathogenic Variants and Identification of Novel Splice Site Donor Variant c.549+1G>T in Indian Population

Background Aicardi-Goutieres syndrome (AGS) is a genetic disorder that has variable manifestations including neurological, immunological, and sometimes other system involvement in various combinations. Considering the high genetic and clinical diversity of AGS and the importance of RNASEH2 complex i...

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Detalles Bibliográficos
Autores principales: Nanjundagowda, Vykuntaraju K, Paikaraya, Swabhiman, Srinivasan, Varunvenkat M, Srivastava, Anshika
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10340131/
https://www.ncbi.nlm.nih.gov/pubmed/37456470
http://dx.doi.org/10.7759/cureus.40366

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10340131/
https://www.ncbi.nlm.nih.gov/pubmed/37456470
http://dx.doi.org/10.7759/cureus.40366

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