A progeroid syndrome caused by a deep intronic variant in TAPT1 is revealed by RNA/SI‐NET sequencing

Exome sequencing has introduced a paradigm shift for the identification of germline variations responsible for Mendelian diseases. However, non‐coding regions, which make up 98% of the genome, cannot be captured. The lack of functional annotation for intronic and intergenic variants makes RNA‐seq a...

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Detalles Bibliográficos
Autores principales: Nabavizadeh, Nasrinsadat, Bressin, Annkatrin, Shboul, Mohammad, Moreno Traspas, Ricardo, Chia, Poh Hui, Bonnard, Carine, Szenker‐Ravi, Emmanuelle, Sarıbaş, Burak, Beillard, Emmanuel, Altunoglu, Umut, Hojati, Zohreh, Drutman, Scott, Freier, Susanne, El‐Khateeb, Mohammad, Fathallah, Rajaa, Casanova, Jean‐Laurent, Soror, Wesam, Arafat, Alaa, Escande‐Beillard, Nathalie, Mayer, Andreas, Reversade, Bruno
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9906387/
https://www.ncbi.nlm.nih.gov/pubmed/36652330
http://dx.doi.org/10.15252/emmm.202216478

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