Resources and tools for rare disease variant interpretation

Collectively, rare genetic disorders affect a substantial portion of the world’s population. In most cases, those affected face difficulties in receiving a clinical diagnosis and genetic characterization. The understanding of the molecular mechanisms of these diseases and the development of therapeu...

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Detalles Bibliográficos
Autores principales: Licata, Luana, Via, Allegra, Turina, Paola, Babbi, Giulia, Benevenuta, Silvia, Carta, Claudio, Casadio, Rita, Cicconardi, Andrea, Facchiano, Angelo, Fariselli, Piero, Giordano, Deborah, Isidori, Federica, Marabotti, Anna, Martelli, Pier Luigi, Pascarella, Stefano, Pinelli, Michele, Pippucci, Tommaso, Russo, Roberta, Savojardo, Castrense, Scafuri, Bernardina, Valeriani, Lucrezia, Capriotti, Emidio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Molecular Biosciences
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10206239/
https://www.ncbi.nlm.nih.gov/pubmed/37234922
http://dx.doi.org/10.3389/fmolb.2023.1169109

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