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Strategies to Uplift Novel Mendelian Gene Discovery for Improved Clinical Outcomes

Rare genetic disorders, while individually rare, are collectively common. They represent some of the most severe disorders affecting patients worldwide with significant morbidity and mortality. Over the last decade, advances in genomic methods have significantly uplifted diagnostic rates for patient...

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Detalhes bibliográficos
Publicado no:Front Genet
Main Authors: Seaby, Eleanor G., Rehm, Heidi L., O’Donnell-Luria, Anne
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2021
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8248347/
https://ncbi.nlm.nih.gov/pubmed/34220947
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2021.674295
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