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Differential intolerance to loss of function and missense mutations in genes that encode human matricellular proteins

Targeted gene disruption in mice has provided valuable insights into the functions of matricellular proteins. Apart from missense and loss of function mutations that have been associated with inherited diseases, however, their functions in humans remain unclear. The availability of deep exome sequen...

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Foilsithe in:J Cell Commun Signal
Main Authors: Kaur, Sukhbir, Roberts, David D.
Formáid: Artigo
Teanga:Inglês
Foilsithe: Springer Netherlands 2021
Ábhair:
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC7904989/
https://ncbi.nlm.nih.gov/pubmed/33415696
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s12079-020-00598-9
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