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Genetic Modifiers and Rare Mendelian Disease

Despite advances in high-throughput sequencing that have revolutionized the discovery of gene defects in rare Mendelian diseases, there are still gaps in translating individual genome variation to observed phenotypic outcomes. While we continue to improve genomics approaches to identify primary dise...

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Foilsithe in:Genes (Basel)
Main Authors: Rahit, K. M. Tahsin Hassan, Tarailo-Graovac, Maja
Formáid: Artigo
Teanga:Inglês
Foilsithe: MDPI 2020
Ábhair:
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC7140819/
https://ncbi.nlm.nih.gov/pubmed/32106447
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes11030239
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