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Naturally occurring genetic diseases caused by de novo variants in domestic ani...

Azevedo, L; Amaro, AP; Niza-Ribeiro, J; Lopes-Marques, M

With the advent of next-generation sequencing, an increasing number of cases of de novo variants in domestic animals have been reported in scientific literature primarily associated with clinically severe phenotypes. The emergence of new variants at each generation is a crucial aspect in understanding the pathology of early-onset diseases in animals and can provide valuable insights into similar diseases in hum...


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