Never-homozygous genetic variants in healthy populations are potential recessive disease candidates

The rapid pace with which genetic variants are now being determined means there is a pressing need to understand how they affect biological systems. Variants from healthy individuals have previously been used to study blood groups or HLA diversity and to identify genes that can apparently be nonfunc...

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Detalles Bibliográficos
Autores principales: Schmenger, Torsten, Diwan, Gaurav D., Singh, Gurdeep, Apic, Gordana, Russell, Robert B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9458638/
https://www.ncbi.nlm.nih.gov/pubmed/36075934
http://dx.doi.org/10.1038/s41525-022-00322-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9458638/
https://www.ncbi.nlm.nih.gov/pubmed/36075934
http://dx.doi.org/10.1038/s41525-022-00322-z

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