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Published in 2017 at "Scientific Reports"
DOI: 10.1038/s41598-017-08902-1
Abstract: The inheritance modes of pathogenic missense mutations are known to be highly associated with protein structures; recessive mutations are mainly observed in the buried region of protein structures, whereas dominant mutations are significantly enriched in…
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Keywords:
disease causing;
causing mechanisms;
missense mutations;
decoding disease ... See more keywords