Article

Mendelian gene identification through mouse embryo viability screening

2022-01-07

Abstract excerpt

The diagnostic rate of Mendelian disorders in sequencing studies continues to increase, along with the pace of novel disease gene discovery. However, variant interpretation in novel genes not currently associated with disease is particularly challenging and strategies combining gene functional evidence with approaches that evaluate the phenotypic similarities between patients and model organisms have proven succes...

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Literature Corpus work: 6b2d4c83-174f-56f0-86d1-82565205c165
DOI: 10.1101/2022.01.07.22268899

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