Why mutation analysis does not always predict clinical consequences: Explanations in the era of genomics
Author:
Publisher
Elsevier BV
Subject
Pediatrics, Perinatology and Child Health
Reference40 articles.
1. Initial sequencing and analysis of the human genome;International Human Genome Sequencing Consortium;Nature,2001
2. The sequence of the human genome;Venter;Science,2001
3. Evolving genomic metaphors: A new look at the language of DNA;Avise;Science,2001
4. Nothing in biology makes sense except in the light of evolution;Dobzhansky;Am Biol Teacher,1973
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