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Submission + - Industrious dad finds the genetic culprit in his daughters mysterious disease (nature.com)

bmahersciwriter writes: Hugh Rienhoff has searched for more than a decade for the cause of a mysterious constellation of clinical features in his daugther Bea: skinny legs, curled fingers and always the specter that she might have a high risk of cardiovascular complications. He even bought second hand lab equipment to prepare some of her genes for sequencing in his basement. Now, he has an answer.
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Industrious dad finds the genetic culprit in his daughters mysterious disease

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