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Genotype Pattern Mining for Pairs of Interacting Variants Underlying Digenic Traits

Some genetic diseases (“digenic traits”) are due to the interaction between two DNA variants, which presumably reflects biochemical interactions. For example, certain forms of Retinitis Pigmentosa, a type of blindness, occur in the presence of two mutant variants, one each in the ROM1 and RDS genes,...

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Detalles Bibliográficos
Autores principales: Okazaki, Atsuko, Horpaopan, Sukanya, Zhang, Qingrun, Randesi, Matthew, Ott, Jurg
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8391494/
https://www.ncbi.nlm.nih.gov/pubmed/34440333
http://dx.doi.org/10.3390/genes12081160